BRAF V600E
|
high grade glioma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) in combination with Mekinist (trametinib) is included in guidelines as adjuvant therapy for pediatric patients with diffuse high-grade gliomas harboring BRAF V600E, or as a preferred regimen for patients with recurrent or progressive disease (NCCN.org).
|
detail...
|
FLT3 exon15
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
CD274 positive
|
lung non-small cell carcinoma
|
sensitive
|
Carboplatin + Cemiplimab + Paclitaxel
|
Guideline |
Actionable |
Combination Paraplatin (carboplatin), Taxol (paclitaxel), and Libtayo (cemiplimab) is in guidelines as first-line therapy for patients with advanced or metastatic non-small cell lung cancer with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
IDH1 mutant
|
acute myeloid leukemia
|
sensitive
|
Olutasidenib
|
Guideline |
Actionable |
Rezlidhia (olutasidenib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring an IDH1 mutation (NCCN.org).
|
detail...
|
MLH1 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Fluorouracil + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
ALK rearrange
|
lung non-small cell carcinoma
|
no benefit
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Immune checkpoint inhibitors including Keytruda (pembrolizumab), Tecentriq (atezolizumab), and the combination of Opdivo (nivolumab) and Yervoy (ipilimumab) are not indicated for use as initial systemic therapy in non-small cell lung cancer patients harboring oncogenes, including ALK rearrangement (NCCN.org).
|
detail...
|
RET fusion
|
cholangiocarcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines as primary (category 2B) or subsequent-line therapy (category 2A) for patients with unresectable or metastatic cholangiocarcinoma harboring RET fusions (NCCN.org).
|
detail...
|
MSH2 negative
|
neuroendocrine tumor
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) locally advanced or metastatic well-differentiated, Grade 3 neuroendocrine tumors or unresectable or metastatic extrapulmonary poorly differentiated neuroendocrine carcinoma, large or small cell carcinoma, or mixed neuroendocrine/non-neuroendocrine neoplasms who have progressed on or following prior treatment (NCCN.org).
|
detail...
|
BRAF V600E
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines as second-line or subsequent therapy for patients with locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma harboring BRAF V600E (NCCN.org).
|
detail...
|
IDH2 wild-type
|
high grade glioma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
IDH2 wild-type is associated with increased risk of aggressive disease in patients with grade II or III infiltrative gliomas (NCCN.org).
|
detail...
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
predicted - sensitive
|
Zanubrutinib
|
Guideline |
Actionable |
Brukinsa (zanubrutinib) is included in guidelines as first line therapy and second line therapy and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation(NCCN.org).
|
detail...
|
MLH1 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH2 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Fluorouracil + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH2 negative
|
breast cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines for patients with metastatic or unresectable breast cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) who have progressed on or following prior treatment (NCCN.org).
|
detail...
|
MSH6 negative
|
ovary epithelial cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy for patients with recurrent epithelial ovarian, fallopian tube, or primary peritoneal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
CD274 positive
|
lung adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is in guidelines as first-line therapy for patients with advanced or metastatic lung adenocarcinoma with CD274 (PD-L1) expression of 1% to 49% and as preferred first-line therapy with CD274 (PD-L1) expression of 50% or more, and negative for actionable molecular biomarkers; and as continued maintenance and subsequent therapy for patients with CD274 (PD-L1) expression of 1% or more (NCCN.org).
|
detail...
|
FLT3 exon23
|
acute myeloid leukemia
|
sensitive
|
Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
MLH1 negative
|
small intestine adenocarcinoma
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) in combination with Yervoy (ipilimumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
FLT3 exon 15 ins
|
acute myeloid leukemia
|
sensitive
|
Sorafenib
|
Guideline |
Actionable |
Nexavar (sorafenib) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
not applicable
|
N/A
|
Guideline |
Prognostic |
Loss of TP53 is associated with a poor prognosis in patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (NCCN.org).
|
detail...
|
ALK rearrange
|
anaplastic large cell lymphoma
|
not applicable
|
N/A
|
Guideline |
Prognostic |
The presence of ALK rearrangement is associated with a favorable prognosis in patients with anaplastic large cell lymphoma (NCCN.org).
|
detail...
|
BRAF V600E
|
Squamous Cell Carcinoma of Unknown Primary
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
The combination of Tafinlar (dabrafenib) and Mekinist (trametinib) is included in guidelines for patients with squamous cell carcinoma of unknown primary harboring BRAF V600E (NCCN.org).
|
detail...
|
FLT3 exon17
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
RET mutant
|
thyroid gland medullary carcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines for patients with medullary thyroid carcinoma harboring RET mutations (NCCN.org).
|
detail...
|
MLH1 negative
|
Ewing sarcoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic Ewing sarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
KIT act mut
|
skin melanoma
|
sensitive
|
Dasatinib
|
Guideline |
Actionable |
Sprycel (dasatinib) is included in guidelines as second-line therapy for metastatic or unresectable cutaneous melanoma patients with KIT activating mutations (NCCN.org).
|
detail...
|
BRAF V600E
|
rectum cancer
|
sensitive
|
Cetuximab + Encorafenib
|
Guideline |
Actionable |
Braftovi (encorafenib) in combination with Erbitux (cetuximab) is included in guidelines as primary or subsequent therapy for patients with rectal cancer harboring BRAF V600E (NCCN.org).
|
detail...
|
MLH1 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Capecitabine + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MLH1 negative
|
breast cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines for patients with metastatic or unresectable breast cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) who have progressed on or following prior treatment (NCCN.org).
|
detail...
|
BRAF V600E
|
rectum cancer
|
sensitive
|
Encorafenib + Panitumumab
|
Guideline |
Actionable |
Braftovi (encorafenib) in combination with Vectibix (panitumumab) is included in guidelines as primary or subsequent therapy for patients with rectal cancer harboring BRAF V600E (NCCN.org).
|
detail...
|
BRAF V600E
|
glioblastoma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Combination of Mekinist (trametinib) and Tafinlar (dabrafenib) is included in guidelines for patients with recurrent glioblastoma harboring BRAF V600E (NCCN.org).
|
detail...
|
PMS2 negative
|
stomach cancer
|
sensitive
|
Durvalumab + Tremelimumab
|
Guideline |
Actionable |
Imfinzi (durvalumab), in combination with Imjudo (tremelimumab, is included in guidelines as neoadjuvant therapy for patients with gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
CD274 positive
|
esophagus squamous cell carcinoma
|
sensitive
|
Fluorouracil + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) in combination with first-line chemotherapy including Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as preferred first-line therapy for patients with locally advanced, recurrent, or metastatic esophageal squamous cell carcinoma expressing PD-L1 (CD274) with CPS >/= 10 (category 1) and for patients with CPS <10 (category 2B) (NCCN.org).
|
detail...
|
VHL inact mut
|
clear cell renal cell carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline inactivating mutations in VHL result in von Hippel-Lindau (VHL) syndrome, which is associated with increased risk of developing clear cell renal cell carcinoma (NCCN.org).
|
detail...
|
CDKN2A mutant
|
pancreatic cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline mutations in CDKN2A results in familial malignant melanoma syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org).
|
detail...
|
CD274 positive
|
lung squamous cell carcinoma
|
sensitive
|
Carboplatin + Ipilimumab + Nivolumab + Paclitaxel
|
Guideline |
Actionable |
Combination Paraplatin (carboplatin), Taxol (paclitaxel), Opdivo (nivolumab), and Yervoy (ipilimumab) is in guidelines as first-line therapy for patients with advanced or metastatic lung squamous cell carcinoma, with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
MSH2 negative
|
Squamous Cell Carcinoma of Unknown Primary
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with squamous cell carcinoma of unknown primary with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
CD274 positive
|
lung non-small cell carcinoma
|
sensitive
|
Atezolizumab + Bevacizumab + Carboplatin + Paclitaxel
|
Guideline |
Actionable |
Combination Paraplatin (carboplatin), Taxol (paclitaxel), Avastin (bevacizumab), and Tecentriq (atezolizumab) is in guidelines as first-line therapy for patients with advanced or metastartic non-small cell lung cancer, not otherwise specified, with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
MSH6 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
BRAF fusion
|
pilocytic astrocytoma
|
not applicable
|
N/A
|
Guideline |
Prognostic |
BRAF fusions are associated with indolent disease in patients with pilocytic astrocytoma (NCCN.org).
|
detail...
|
MSH6 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Fluorouracil + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
RET C630X
|
thyroid gland medullary carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline RET C630X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with high risk of developing thyroid medullary carcinoma (NCCN.org).
|
detail...
|
PMS2 negative
|
small intestine adenocarcinoma
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) in combination with Yervoy (ipilimumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
KMT2A rearrange
|
B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
KMT2A rearrangements are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
MSH2 negative
|
thyroid gland Hurthle cell carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with Hurthle cell thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).
|
detail...
|
IDH1 mutant
|
acute myeloid leukemia
|
sensitive
|
Decitabine + Venetoclax
|
Guideline |
Actionable |
Venclexta (venetoclax) in combination with Dacogen (decitabine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH1 mutation (NCCN.org).
|
detail...
|
CBL mutant
|
myelofibrosis
|
not applicable
|
N/A
|
Guideline |
Prognostic |
CBL mutations are associated with inferior overall survival in patients with primary myelofibrosis (NCCN.org).
|
detail...
|
BRAF V600E
|
ganglioglioma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Combination of Mekinist (trametinib) and Tafinlar (dabrafenib) is included in guidelines as an adjuvant treatment for patients with ganglioglioma harboring BRAF V600E (NCCN.org).
|
detail...
|
TP53 mutant
|
medulloblastoma
|
not applicable
|
N/A
|
Guideline |
Prognostic |
TP53 mutations are associated with aggressive disease in patients with SHH-activated medulloblastoma (NCCN.org).
|
detail...
|
MSH6 negative
|
esophagus adenocarcinoma
|
sensitive
|
Capecitabine + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MLH1 negative
|
ampulla of Vater adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line or subsequent therapy for metastatic ampullary adenocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH6 negative
|
thyroid gland papillary carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with papillary thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).
|
detail...
|
PMS2 negative
|
intrahepatic cholangiocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as primary therapy and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including intrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
MSH6 negative
|
esophagus adenocarcinoma
|
sensitive
|
Fluorouracil + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
NRAS Q61X
|
myelodysplastic syndrome
|
not applicable
|
N/A
|
Guideline |
Prognostic |
NRAS Q61X is associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org).
|
detail...
|
PMS2 negative
|
extrahepatic bile duct carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as primary therapy and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including extrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
BRAF V600E
|
lung non-small cell carcinoma
|
sensitive
|
Binimetinib + Encorafenib
|
Guideline |
Actionable |
Combination of Braftovi (encorafenib) and Mektovi (binimetinib) is included in guidelines as a first-line or subsequent therapy for advanced or metastatic non-small cell lung cancer patients harboring BRAF V600E mutations (NCCN.org).
|
detail...
|
MSH2 negative
|
vulva cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as a second-line therapy for patients with MSI high or dMMR (often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) vulva cancer (NCCN.org).
|
detail...
|
CD274 positive
|
gastric adenocarcinoma
|
sensitive
|
Capecitabine + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) in combination with a fluoropyrimidine (Xeloda (capecitabine) or Adrucil (fluorouracil)) and platinum-containing chemotherapy (Eloxatin (oxaliplatin) or Platinol (cisplatin)) is included in guidelines as a preferred first-line therapy for patients with locally advanced, unresectable, or metastatic gastric adenocarcinoma expressing CD274 (PD-L1, CPS>/=10; category 1) or CD274 (PD-L1, CPS>/=1 and <10; category 2B) and without ERBB2 (HER2) overexpression (NCCN.org).
|
detail...
|
CD274 positive
|
lung adenocarcinoma
|
sensitive
|
Cemiplimab + Cisplatin + Paclitaxel
|
Guideline |
Actionable |
Combination Platinol (cisplatin), Taxol (paclitaxel), and Libtayo (cemiplimab) is in guidelines as first-line therapy for patients with advanced or metastatic lung adenocarcinoma with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
ALK fusion
|
Erdheim-Chester disease
|
sensitive
|
Alectinib
|
Guideline |
Actionable |
Alecensa (alectinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring ALK fusions (NCCN.org).
|
detail...
|
PMS2 negative
|
ampulla of Vater adenocarcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for metastatic ampullary adenocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MLH1 negative
|
esophagus adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line, second-line, or subsequent therapy for patients with microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) esophageal adenocarcinoma that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).
|
detail...
|
MSH6 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Durvalumab + Tremelimumab
|
Guideline |
Actionable |
Imfinzi (durvalumab), in combination with Imjudo (tremelimumab), is included in guidelines as neoadjuvant therapy for patients with gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH2 negative
|
rectum cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with advanced or metastatic rectal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
CD274 positive
|
lung non-small cell carcinoma
|
sensitive
|
Atezolizumab
|
Guideline |
Actionable |
Tecentriq (atezolizumab) is included in guidelines as adjuvant therapy for non-small cell lung cancer patients with PD-L1 expression >/= 1% and negative for EGFR exon 19 deletion, L858R, or ALK rearrangements who have received prior adjuvant chemotherapy (NCCN.org).
|
detail...
|
MLH1 negative
|
stomach cancer
|
sensitive
|
Durvalumab + Tremelimumab
|
Guideline |
Actionable |
Imfinzi (durvalumab), in combination with Imjudo (tremelimumab, is included in guidelines as neoadjuvant therapy for patients with gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MLH1 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Fluorouracil + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
PMS2 negative
|
stomach cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced or metastatic gastric cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH6 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Capecitabine + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
FLT3 exon23
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
CD274 positive
|
esophageal cancer
|
sensitive
|
Capecitabine + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) in combination with first-line chemotherapy including Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as preferred first-line therapy for patients with locally advanced, recurrent, or metastatic ERBB2 (HER2) overexpression negative esophageal adenocarcinoma expressing PD-L1 (CD274) with CPS >/= 10 (category 1) or with CPS <10 (category 2B) (NCCN.org).
|
detail...
|
CD274 positive
|
esophagus squamous cell carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as a preferred second-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal squamous cell carcinoma with CD274 (PD-L1) expression (CPS >/=10) (NCCN.org).
|
detail...
|
MSH6 negative
|
testicular germ cell cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as a third-line therapy for metastatic testicular germ cell cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
FLT3 exon 15 ins
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Quizartinib
|
Guideline |
Actionable |
Vanflyta (quizartinib) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
TP53 mutant
|
myelodysplastic syndrome
|
not applicable
|
N/A
|
Guideline |
Prognostic |
TP53 mutations except P47S and P72R are associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org).
|
detail...
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Obinutuzumab
|
Guideline |
Actionable |
Gazyva (obinutuzumab) is indicated in the guidelines as first line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).
|
detail...
|
FLT3 exon22
|
acute myeloid leukemia
|
sensitive
|
Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
FGFR2 rearrange
|
cholangiocarcinoma
|
sensitive
|
Futibatinib
|
Guideline |
Actionable |
Lytgobi (futibatinib) is included in guidelines as subsequent-line therapy (category 2A) for patients with cholangiocarcinoma harboring an FGFR2 fusion or rearrangement (NCCN.org).
|
detail...
|
PMS2 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Fluorouracil + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
ALK rearrange
|
lung non-small cell carcinoma
|
no benefit
|
Gefitinib
|
Guideline |
Actionable |
EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) are not indicated for use as subsequent therapy in ALK rearranged non-small cell lung cancer patients who relapsed on Alecensa (alectinib), Xalkori (crizotinib), or Zykadia (ceritinib) (NCCN.org).
|
detail...
|
MLH1 negative
|
extrahepatic bile duct carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as primary therapy and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including extrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
MSH2 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
FLT3 D835X
|
myelodysplastic syndrome
|
not applicable
|
N/A
|
Guideline |
Prognostic |
FLT3 D835 mutations are associated with poor prognosis in patients with myelodysplastic syndromes (NCCN.org).
|
detail...
|
KIT act mut
|
skin melanoma
|
sensitive
|
Ripretinib
|
Guideline |
Actionable |
Qinlock (ripretinib) is included in guidelines as second-line therapy for metastatic or unresectable cutaneous melanoma patients with KIT activating mutations (NCCN.org).
|
detail...
|
RET mutant
|
thyroid gland medullary carcinoma
|
sensitive
|
Pralsetinib
|
Guideline |
Actionable |
Gavreto (pralsetinib) is included in guidelines (category 2B) for patients with medullary thyroid carcinoma harboring RET mutations (NCCN.org).
|
detail...
|
NRAS wild-type
|
rectum cancer
|
predicted - sensitive
|
Cetuximab
|
Guideline |
Actionable |
Erbitux (cetuximab), alone and in combination with chemotherapy, is included in guidelines for patients with advanced or metastatic rectal cancer that is BRAF wild-type, KRAS wild-type, and NRAS wild-type (NCCN.org).
|
detail...
|
TP53 mutant
|
acute myeloid leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
TP53 mutations are associated with a poor/adverse prognosis in patients with non-APL acute myeloid leukemia (NCCN.org).
|
detail...
|
CD274 positive
|
lung large cell carcinoma
|
sensitive
|
Cemiplimab + Cisplatin + Paclitaxel
|
Guideline |
Actionable |
Combination Platinol (cisplatin), Taxol (paclitaxel), and Libtayo (cemiplimab) is in guidelines as first-line therapy for patients with advanced or metastatic large cell lung cancer with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
ALK rearrange
|
lung non-small cell carcinoma
|
sensitive
|
Crizotinib
|
Guideline |
Actionable |
Xalkori (crizotinib) is included in guidelines as first-line therapy for ALK rearranged non-small cell lung cancer (NCCN.org).
|
detail...
|
CD274 positive
|
head and neck cancer
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) in combination with Yervoy (ipilimumab) is included in guidelines as first-line therapy (category 2B) for patients with CD274 (PD-L1)-positive (CPS >= 20) recurrent, unresectable, or metastatic non-nasopharyngeal head and neck cancer (NCCN.org).
|
detail...
|
IDH1 mutant
|
anaplastic astrocytoma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
IDH1 mutations aid in the diagnosis of grade III astrocytomas (NCCN.org).
|
detail...
|
POLE inact mut
|
rectum cancer
|
sensitive
|
Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) is included in guidelines as systemic therapy for patients with advanced or metastatic rectal cancer harboring POLE inactivating mutations (NCCN.org).
|
detail...
|
MSH6 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Capecitabine + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MLH1 negative
|
testicular germ cell cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as a third-line therapy for metastatic testicular germ cell cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
POLD1 inact mut
|
colon cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy for patients with advanced or metastatic colon cancer harboring POLD1 inactivating mutations (NCCN.org).
|
detail...
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Methylprednisolone + Obinutuzumab
|
Guideline |
Actionable |
Artisone-Wyeth (methylprednisolone) combined with Gazyva (obinutuzumab) is indicated in guidelines as first-line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss and for patients with relapsed or refractory disease after prior BTK inhibitor or Venclexta (venetoclax)-based therapy (NCCN.org).
|
detail...
|
VHL inact mut
|
renal cell carcinoma
|
sensitive
|
Pazopanib
|
Guideline |
Actionable |
Votrient (pazopanib) is included in guidelines as systemic therapy for patients with renal cell carcinoma associated with Von Hippel-Lindau disease (NCCN.org).
|
detail...
|
MLH1 negative
|
small intestine adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
DNMT3A mutant
|
angioimmunoblastic T-cell lymphoma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
DNMT3A mutations aid in the diagnosis of angioimmunoblastic T-cell lymphoma (NCCN.org).
|
detail...
|
PMS2 negative
|
vulva cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as a second-line therapy for patients with MSI high or dMMR (often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) vulva cancer (NCCN.org).
|
detail...
|
PMS2 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Capecitabine + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MAP2K1 mutant
|
Erdheim-Chester disease
|
sensitive
|
Trametinib
|
Guideline |
Actionable |
Mekinist (trametinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring mutations in the MAPK pathway such as ARAF, NRAS, KRAS, MAP2K1/2, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN.org).
|
detail...
|
ROS1 rearrange
|
lung non-small cell carcinoma
|
sensitive
|
Ceritinib
|
Guideline |
Actionable |
Zykadia (ceritinib) is included in guidelines as first-line therapy for ROS1-rearranged non-small cell lung cancer, but is not indicated after patients become resistant to Xalkori (crizotinib) (NCCN.org).
|
detail...
|
MSH6 negative
|
esophagus adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line, second-line, or subsequent therapy for patients with microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) esophageal adenocarcinoma that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).
|
detail...
|
TP53 mutant
|
acute myeloid leukemia
|
sensitive
|
Decitabine
|
Guideline |
Actionable |
Dacogen (decitabine) is included in guidelines for adult patients with acute myeloid leukemia harboring a TP53 mutation (NCCN.org).
|
detail...
|
ALK fusion
|
Erdheim-Chester disease
|
sensitive
|
Crizotinib
|
Guideline |
Actionable |
Xalkori (crizotinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring ALK fusions (NCCN.org).
|
detail...
|
JAK2 V617F
|
myelofibrosis
|
not applicable
|
N/A
|
Guideline |
Prognostic |
JAK2 V617F is associated with intermediate prognosis and higher risk of thrombosis when compared to the presence of CALR mutations in patients with primary myelofibrosis (NCCN.org).
|
detail...
|
BRAF V600E
|
biliary tract cancer
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) in combination with Mekinist (trametinib) is included in guidelines as subsequent-line therapy for patients with biliary tract cancer harboring BRAF V600E (NCCN.org).
|
detail...
|
MSH6 negative
|
thyroid gland follicular carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with follicular thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).
|
detail...
|
POLE inact mut
|
rectum cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with advanced or metastatic rectal cancer harboring POLE inactivating mutations (NCCN.org).
|
detail...
|
PMS2 negative
|
colon cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as preferred primary or subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
CD274 positive
|
lung non-small cell carcinoma
|
sensitive
|
Carboplatin + Durvalumab + Pemetrexed Disodium + Tremelimumab
|
Guideline |
Actionable |
Combination Paraplatin (carboplatin), Alimta (pemetrexed disodium), Imfinzi (durvalumab), and Imjudo (tremelimumab) is in guidelines as first-line therapy for patients with advanced or metastatic non-small cell lung cancer, not otherwise specified, with CD274 (PD-L1) expression >/=1% - 49% (category 1) or >/= 50% (category 2B), and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
MLH1 negative
|
bone cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as a systemic therapy for patients with unresectable or metastatic bone cancer with high microsatellite instability (MSI-H) or mismatch repair deficiency (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
CD274 positive
|
lung large cell carcinoma
|
sensitive
|
Carboplatin + Ipilimumab + Nivolumab + Pemetrexed Disodium
|
Guideline |
Actionable |
Combination Paraplatin (carboplatin), Alimta (pemetrexed), Opdivo (nivolumab), and Yervoy (ipilimumab) is in guidelines as first-line therapy for patients with advanced or metastatic large cell lung cancer with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
NRAS exon4
|
colon cancer
|
resistant
|
Panitumumab
|
Guideline |
Actionable |
Vectibix (panitumumab) is not indicated for use in colon cancer patients with NRAS exon 4 mutations (NCCN.org).
|
detail...
|
BRAF V600E
|
anaplastic astrocytoma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Combination of Mekinist (trametinib) and Tafinlar (dabrafenib) is included in guidelines for patients with recurrent anaplastic gliomas harboring BRAF V600E, including anaplastic astrocytoma (NCCN.org).
|
detail...
|
VHL inact mut
|
hemangioblastoma
|
sensitive
|
Belzutifan
|
Guideline |
Actionable |
Welireg (belzutifan) is included in guidelines for patients with Von Hippel-Lindau disease-associated CNS hemangioblastoma that do not require immediate surgery (NCCN.org).
|
detail...
|
MLH1 negative
|
endometrial carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line or subsequent-line therapy for patients with recurrent or metastatic endometrial carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Acalabrutinib + Obinutuzumab
|
Guideline |
Actionable |
Calquence (acalabrutinib) combined with Gazyva (obinutuzumab) is indicated in the guidelines as first-line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).
|
detail...
|
IDH2 mutant
|
high grade glioma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
IDH2 mutations aid in the diagnosis of gliomas (NCCN.org).
|
detail...
|
BRAF V600E
|
lung non-small cell carcinoma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Combination of Mekinist (trametinib) and Tafinlar (dabrafenib) is included in guidelines as a first-line or subsequent therapy for advanced or metastatic non-small cell lung cancer patients harboring BRAF V600E mutations (NCCN.org).
|
detail...
|
MLH1 negative
|
rectum cancer
|
sensitive
|
Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) is included in guidelines as a primary therapy for advanced or metastatic rectum cancer patients with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
CD274 over exp
|
lung adenocarcinoma
|
sensitive
|
Cemiplimab
|
Guideline |
Actionable |
Libtayo (cemiplimab) is included in guidelines as preferred first-line therapy for patients with advanced or metastatic lung adenocarcinoma with CD274 (PD-L1) expression of at least 50% and negative for actionable molecular biomarkers; and as continued maintenance therapy (NCCN.org).
|
detail...
|
BRAF V600E
|
low grade glioma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Combination of Mekinist (trametinib) and Tafinlar (dabrafenib) is included in guidelines for patients with recurrent or progressive low grade glioma harboring BRAF V600E (NCCN.org).
|
detail...
|
FLT3 exon19
|
acute myeloid leukemia
|
sensitive
|
Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
PMS2 negative
|
esophagus adenocarcinoma
|
sensitive
|
Capecitabine + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
CD274 positive
|
esophagus adenocarcinoma
|
sensitive
|
Capecitabine + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab) in combination with first-line chemotherapy including Xeloda (capecitabine) and Eloxatin (oxaliplatin), is included in guidelines as preferred first-line therapy for patients with locally advanced, recurrent, or metastatic ERBB2 (HER2) overexpression negative esophageal adenocarcinoma expressing PD-L1 (CD274) with CPS >/= 5 (category 1) or with CPS < 5 (category 2B) (NCCN.org).
|
detail...
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Duvelisib
|
Guideline |
Actionable |
Copiktra (duvelisib) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).
|
detail...
|
MSH2 negative
|
stomach cancer
|
sensitive
|
Fluorouracil + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
CD274 positive
|
lung large cell carcinoma
|
sensitive
|
Carboplatin + Cemiplimab + Paclitaxel
|
Guideline |
Actionable |
Combination Paraplatin (carboplatin), Taxol (paclitaxel), and Libtayo (cemiplimab) is in guidelines as first-line therapy for patients with advanced or metastatic large cell lung cancer with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
RET fusion
|
thyroid gland Hurthle cell carcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines for patients with thyroid Hurthle cell carcinoma harboring RET fusions (NCCN.org).
|
detail...
|
MSH2 negative
|
small intestine adenocarcinoma
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) in combination with Yervoy (ipilimumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Pirtobrutinib
|
Guideline |
Actionable |
Jaypirca (pirtobrutinib) is included in guidelines as second-line or third-line therapy for patients with chronic lymphocytic leukemia/small lymphocytic lymphoma with a TP53 mutation and for patients with relapsed or refractory disease after prior BTK inhibitor and Venclexta (venetoclax)-based therapy (NCCN.org).
|
detail...
|
PMS2 negative
|
penile cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as subsequent-line systemic therapy for metastatic/recurrent penile cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
BRAF V600E
|
skin melanoma
|
sensitive
|
Binimetinib + Encorafenib
|
Guideline |
Actionable |
Braftovi (encorafenib) in combination with Mektovi (binimetinib) is included in guidelines as first-line and second-line therapy for patients with metastatic or unresectable cutaneous melanoma harboring BRAF V600E or V600K mutations (PMID: 30959471; NCCN.org).
|
detail...
30959471
|
CD274 positive
|
esophageal cancer
|
sensitive
|
Capecitabine + Cisplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) in combination with first-line chemotherapy including Xeloda (capecitabine) and Platinol (cisplatin) is included in guidelines as preferred first-line therapy for patients with locally advanced, recurrent, or metastatic ERBB2 (HER2) overexpression negative esophageal adenocarcinoma expressing PD-L1 (CD274) with CPS >/= 10 (category 1) or with CPS <10 (category 2B) (NCCN.org).
|
detail...
|
CD274 positive
|
lung non-small cell carcinoma
|
sensitive
|
Cisplatin + Ipilimumab + Nivolumab + Pemetrexed Disodium
|
Guideline |
Actionable |
Combination Platinol (cisplatin), Alimta (pemetrexed), Opdivo (nivolumab), and Yervoy (ipilimumab) is in guidelines as first-line therapy for patients with advanced or metastatic non-small cell lung cancer, not otherwise specified, with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
BRAF V600E
|
anaplastic oligodendroglioma
|
sensitive
|
Cobimetinib + Vemurafenib
|
Guideline |
Actionable |
Combination of Zelboraf (vemurafenib) and Cotellic (cobimetinib) is included in guidelines for patients with recurrent anaplastic gliomas harboring BRAF V600E, including anaplastic oligodendroglioma (NCCN.org).
|
detail...
|
MSH2 negative
|
Adenocarcinoma of Unknown Primary
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines for patients with adenocarcinoma of unknown primary with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
ALK rearrange
|
lung non-small cell carcinoma
|
no benefit
|
Osimertinib
|
Guideline |
Actionable |
EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) are not indicated for use as subsequent therapy in ALK rearranged non-small cell lung cancer patients who relapsed on Alecensa (alectinib), Xalkori (crizotinib), or Zykadia (ceritinib) (NCCN.org).
|
detail...
|
CD274 positive
|
esophageal cancer
|
sensitive
|
Fluorouracil + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) in combination with first-line chemotherapy including Adrucil (fluorouracil) and Eloxatin (oxaliplatin), is included in guidelines as preferred first-line therapy for patients with with locally advanced, recurrent, or metastatic ERBB2 (HER2) overexpression negative esophageal adenocarcinoma expressing PD-L1 (CD274) with CPS >/= 10 (category 1) or with CPS <10 (category 2B) (NCCN.org).
|
detail...
|
ALK rearrange ALK G1202R
|
lung non-small cell carcinoma
|
sensitive
|
Lorlatinib
|
Guideline |
Actionable |
Lorbrena (lorlatinib) is included in guidelines as subsequent therapy for patients with advanced or metastatic ALK-rearranged non-small cell lung cancer harboring ALK G1202R (NCCN.org).
|
detail...
|
PMS2 negative
|
esophagus adenocarcinoma
|
sensitive
|
Fluorouracil + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
CD274 positive
|
cervical cancer
|
sensitive
|
Bevacizumab + Paclitaxel + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) combined with Taxol (paclitaxel) and Avastin (bevacizumab) is included in guidelines as first-line therapy for patients with CD274 (PD-L1)-positive cervical cancer (NCCN.org).
|
detail...
|
MSH2 mutant
|
small intestine adenocarcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing small bowel adenocarcinoma (NCCN.org).
|
detail...
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Methylprednisolone + Rituximab
|
Guideline |
Actionable |
Artisone-Wyeth (methylprednisolone) combined with Rituxan (rituximab) is indicated in the guidelines as first-line therapy and second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).
|
detail...
|
MSH2 negative
|
colon cancer
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as primary or subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
IDH2 R140Q
|
myelodysplastic syndrome
|
not applicable
|
N/A
|
Guideline |
Prognostic |
IDH2 R140Q is associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org).
|
detail...
|
MSH2 negative
|
small intestine adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
CD274 over exp
|
lung squamous cell carcinoma
|
sensitive
|
Cemiplimab
|
Guideline |
Actionable |
Libtayo (cemiplimab) is included in guidelines as preferred first-line therapy for patients with advanced or metastatic lung squamous cell carcinoma with CD274 (PD-L1) expression of at least 50% and negative for actionable molecular biomarkers; and as continued maintenance therapy (NCCN.org).
|
detail...
|
BRAF V600E
|
gastrointestinal stromal tumor
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) in combination with Mekinist (trametinib) is included in guidelines as neoadjuvant therapy for patients with resectable disease and as first-line systemic therapy for patients with unresectable or metastatic gastrointestinal stromal tumor (GIST) harboring BRAF V600E (NCCN.org).
|
detail...
|
FLT3 exon16
|
acute myeloid leukemia
|
sensitive
|
Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Ibrutinib
|
Guideline |
Actionable |
Imbruvica (ibrutinib) is indicated in the guidelines as first line therapy and second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).
|
detail...
|
FGFR3 mutant
|
bladder urothelial carcinoma
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in the guidelines for patients with advanced or metastatic urothelial carcinoma harboring Fgfr3 alterations after progression on platinum-based regimens (NCCN.org).
|
detail...
|
BRAF V600X
|
skin melanoma
|
sensitive
|
Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) therapy is included in guidelines for patients with unresectable or metastatic cutaneous melanoma harboring BRAF V600 activating mutations, in cases where BRAF/MEK inhibitor combination therapy is contraindicated (NCCN.org).
|
detail...
|
PMS2 negative
|
neuroendocrine tumor
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) locally advanced or metastatic well-differentiated, Grade 3 neuroendocrine tumors or unresectable or metastatic extrapulmonary poorly differentiated neuroendocrine carcinoma, large or small cell carcinoma, or mixed neuroendocrine/non-neuroendocrine neoplasms who have progressed on or following prior treatment (NCCN.org).
|
detail...
|
RET S891X
|
thyroid gland medullary carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline RET S891X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with increased risk of developing thyroid medullary carcinoma (NCCN.org).
|
detail...
|
MSH6 negative
|
gallbladder cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy (category 2B) for patients with biliary tract cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including gallbladder cancer (NCCN.org).
|
detail...
|
NRAS exon2
|
colon cancer
|
resistant
|
Panitumumab
|
Guideline |
Actionable |
Vectibix (panitumumab) is not indicated for use in colon cancer patients with NRAS exon 2 mutations (NCCN.org).
|
detail...
|
ALK rearrange ALK L1196M ALK G1202R
|
lung non-small cell carcinoma
|
resistant
|
Lorlatinib
|
Guideline |
Actionable |
Lorbrena (lorlatinib) is not indicated for use as subsequent therapy for patients with advanced or metastatic ALK-rearranged non-small cell lung cancer harboring ALK L1196M and G1202R compound mutations (NCCN.org).
|
detail...
|
IDH1 mutant
|
acute myeloid leukemia
|
sensitive
|
Azacitidine + Venetoclax
|
Guideline |
Actionable |
Venclexta (venetoclax) in combination with Vidaza (azacitidine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH1 mutation (NCCN.org).
|
detail...
|
CDK12 inact mut
|
prostate cancer
|
sensitive
|
Enzalutamide + Talazoparib
|
Guideline |
Actionable |
Talzenna (talazoparib) plus Xtandi (enzalutamide) is included in guidelines as systemic therapy for patients with metastatic castration-resistant prostate cancer harboring a pathogenic germline or somatic CDK12 mutation who have not been treated in the setting of castration-resistant prostate cancer (NCCN.org).
|
detail...
|
IDH2 mutant
|
polycythemia vera
|
not applicable
|
N/A
|
Guideline |
Prognostic |
IDH2 mutations are associated with inferior overall survival and leukemia-free survival in patients with polycythemia vera (NCCN.org).
|
detail...
|
CD274 over exp
|
lung large cell carcinoma
|
sensitive
|
Cemiplimab
|
Guideline |
Actionable |
Libtayo (cemiplimab) is included in guidelines as preferred first-line therapy for patients with advanced or metastatic lung large cell carcinoma with CD274 (PD-L1) expression of at least 50% and negative for actionable molecular biomarkers; and as continued maintenance therapy (NCCN.org).
|
detail...
|
IDH2 mutant
|
myelofibrosis
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
IDH2 mutations aid in the diagnosis of primary myelofibrosis in the absence of JAK2, CALR, or MPL mutations (NCCN.org).
|
detail...
|
MSH2 mutant
|
stomach cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline mutations in MSH2 result in Lynch syndrome, which is associated with increased risk of early onset of gastric cancer (NCCN.org).
|
detail...
|
MSH2 negative
|
pancreatic adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line or subsequent therapy for patients with locally advanced, metastatic, or recurrent pancreatic adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
CD274 positive
|
stomach cancer
|
sensitive
|
Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with first-line chemotherapy including fluoropyrimidine and oxaliplatin, is included in guidelines as preferred first-line therapy for patients with gastric cancer expressing PD-L1 (CD274, CPS>=5), and without ERBB2 (HER2) overexpression (category 1), and as first-line therapy for patients with PD-L1 expression (CD274, CPS <5) and without ERBB2 (HER2) overexpression (category 2B) (NCCN.org).
|
detail...
|
KIT D816V
|
systemic mastocytosis
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
KIT D816V aids in the diagnosis of systemic mastocytosis (NCCN.org).
|
detail...
|
FLT3 mutant
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Venetoclax
|
Guideline |
Actionable |
Venclexta (venetoclax) in combination with Cytosar-U (cytarabine) is included in guidelines for adult patients with acute myeloid leukemia harboring a FLT3 mutation (NCCN.org).
|
detail...
|
ROS1 rearrange
|
lung non-small cell carcinoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as a first-line or subsequent therapy for patients with advanced or metastatic ROS1 rearrangement-positive non-small cell lung cancer (NCCN.org).
|
detail...
|
CD274 positive
|
lung adenocarcinoma
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Combination Opdivo (nivolumab) plus Yervoy (ipilimumab) is in guidelines as first-line or continuation maintenance therapy for advanced or metastatic lung adenocarcinoma patients with CD274 (PD-L1) expression >1% and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
POLD1 inact mut
|
colorectal carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline POLD1 inactivating mutations result in polymerase proofreading-associated polyposis and are associated with increased risk of developing colorectal carcinoma (NCCN.org).
|
detail...
|
NRAS wild-type
|
colon cancer
|
predicted - sensitive
|
Cetuximab
|
Guideline |
Actionable |
Erbitux (cetuximab), alone and in combination with chemotherapy, is included in guidelines for patients with advanced or metastatic colon cancer that is BRAF wild-type, KRAS wild-type, and NRAS wild-type (NCCN.org).
|
detail...
|
ATM mutant
|
prostate cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline ATM mutations are associated with increased risk of developing prostate cancer (NCCN.org).
|
detail...
|
BRAF V600K
|
skin melanoma
|
sensitive
|
Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) therapy is included in guidelines for cutaneous melanoma patients with unresectable or metastatic disease harboring BRAF V600 activating mutations, such as BRAF V600K, in cases where BRAF/MEK inhibitor combination therapy is contraindicated (NCCN.org).
|
detail...
|
FLT3 exon18
|
acute myeloid leukemia
|
sensitive
|
Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
FLT3 exon21
|
acute myeloid leukemia
|
sensitive
|
Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
MSH2 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
FLT3 exon18
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
PMS2 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
IDH1 mutant
|
myelodysplastic syndrome
|
sensitive
|
Ivosidenib
|
Guideline |
Actionable |
Tibsovo (ivosidenib) is included in guidelines for patients with myelodysplastic syndrome harboring an IDH1 mutation who progressed or failed to respond to prior treatment (NCCN.org).
|
detail...
|
MSH6 negative
|
stomach cancer
|
sensitive
|
Durvalumab + Tremelimumab
|
Guideline |
Actionable |
Imfinzi (durvalumab), in combination with Imjudo (tremelimumab, is included in guidelines as neoadjuvant therapy for patients with gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
ABL1 rearrange
|
myeloid neoplasm
|
sensitive
|
Asciminib
|
Guideline |
Actionable |
Scemblix (asciminib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring an ABL1 rearrangement (NCCN.org).
|
detail...
|
CD274 positive
|
lung non-small cell carcinoma
|
sensitive
|
Cemiplimab + Cisplatin + Pemetrexed Disodium
|
Guideline |
Actionable |
Combination Platinol (cisplatin), Alimta (pemetrexed disodium), and Libtayo (cemiplimab) is in guidelines as first-line therapy for patients with advanced or metastatic non-small cell lung cancer, not otherwise specified, with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
MSH6 negative
|
osteosarcoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic osteosarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
CD274 over exp
|
lung large cell carcinoma
|
sensitive
|
Atezolizumab
|
Guideline |
Actionable |
Tecentriq (atezolizumab) is included in guidelines as preferred first-line therapy for patients with advanced or metastatic large cell lung cancer with CD274 (PD-L1) expression of at least 50% and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
MSH6 negative
|
esophagus adenocarcinoma
|
sensitive
|
Fluorouracil + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
BRAF V600E
|
skin melanoma
|
sensitive
|
Dabrafenib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) therapy is included in guidelines for cutaneous melanoma patients with unresectable or metastatic disease harboring BRAF V600 activating mutations, such as BRAF V600E, in cases where BRAF/MEK inhibitor combination therapy is contraindicated (NCCN.org).
|
detail...
|
BRAF V600E
|
thyroid gland papillary carcinoma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
The combination of Tafinlar (dabrafenib) and Mekinist (trametinib) is included in guidelines for patients with papillary thyroid carcinoma harboring BRAF V600E who have progressed on therapy and have no further treatment options (NCCN.org).
|
detail...
|
PMS2 negative
|
cervical cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as preferred second-line or subsequent therapy for patients with cervical cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH2 negative
|
ovary epithelial cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy for patients with recurrent epithelial ovarian, fallopian tube, or primary peritoneal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
FLT3 mutant
|
acute myeloid leukemia
|
sensitive
|
Decitabine + Venetoclax
|
Guideline |
Actionable |
Venclexta (venetoclax) in combination with Dacogen (decitabine) is included in guidelines for adult patients with acute myeloid leukemia harboring a FLT3 mutation (NCCN.org).
|
detail...
|
MLH1 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line, second-line, or subsequent therapy for patients with microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) gastroesophageal junction cancer that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).
|
detail...
|
BRAF V600E
|
Erdheim-Chester disease
|
sensitive
|
Dabrafenib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring BRAF V600E (NCCN.org).
|
detail...
|
MLH1 negative
|
intrahepatic cholangiocarcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy (category 2B) for patients with biliary tract cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including intrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
FLT3 exon17
|
acute myeloid leukemia
|
sensitive
|
Gilteritinib
|
Guideline |
Actionable |
Xospata (gilteritinib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
CD274 over exp
|
lung squamous cell carcinoma
|
sensitive
|
Atezolizumab
|
Guideline |
Actionable |
Tecentriq (atezolizumab) is in guidelines as preferred first-line therapy for patients with advanced or metastatic lung squamous cell carcinoma with CD274 (PD-L1) expression of 50% or more, and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
CD274 positive
|
lung adenocarcinoma
|
sensitive
|
Cemiplimab + Cisplatin + Pemetrexed Disodium
|
Guideline |
Actionable |
Combination Platinol (cisplatin), Alimta (pemetrexed disodium), and Libtayo (cemiplimab) is in guidelines as first-line therapy for patients with advanced or metastatic lung adenocarcinoma, with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
MSH2 mutant
|
colon cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colon cancer (NCCN.org).
|
detail...
|
PMS2 negative
|
stomach cancer
|
sensitive
|
Fluorouracil + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
CD274 positive
|
lung large cell carcinoma
|
sensitive
|
Cisplatin + Ipilimumab + Nivolumab + Pemetrexed Disodium
|
Guideline |
Actionable |
Combination Platinol (cisplatin), Alimta (pemetrexed), Opdivo (nivolumab), and Yervoy (ipilimumab) is in guidelines as first-line therapy for patients with advanced or metastatic large cell lung cancer with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
FLT3 exon19
|
acute myeloid leukemia
|
sensitive
|
Gilteritinib
|
Guideline |
Actionable |
Xospata (gilteritinib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
MSH6 negative
|
rectum cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with advanced or metastatic rectal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH2 negative
|
sarcoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy for soft tissue sarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), regardless of sarcoma sub-type (NCCN.org).
|
detail...
|
MSH6 negative
|
stomach cancer
|
sensitive
|
Capecitabine + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Ibrutinib + Venetoclax
|
Guideline |
Actionable |
Venclexta (venetoclax) combined with Imbruvica (ibrutinib) is indicated in guidelines as first-line, second-line, or third-line therapy (category 2B) for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).
|
detail...
|
MLH1 negative
|
esophagus adenocarcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MLH1 negative
|
cervical cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as preferred second-line or subsequent therapy for patients with cervical cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH6 mutant
|
small intestine adenocarcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing small bowel adenocarcinoma (NCCN.org).
|
detail...
|
MSH6 negative
|
rectum cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as a preferred primary therapy for advanced or metastatic rectum cancer patients with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH2 negative
|
gallbladder cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as primary therapy and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including gallbladder cancer (NCCN.org).
|
detail...
|
IDH1 mutant
|
high grade glioma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
IDH1 mutations aid in the diagnosis of gliomas (PMID: 23041832, PMID: 19755387, PMID: 19915484; NCCN.org).
|
detail...
23041832
19755387
19915484
|
MLH1 negative
|
gallbladder cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as primary therapy and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including gallbladder cancer (NCCN.org).
|
detail...
|
FLT3 exon 15 ins
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Daunorubicin + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine) is included in guidelines for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
FGFR1 rearrange
|
myeloid and lymphoid neoplasms associated with FGFR1 abnormalities
|
sensitive
|
Pemigatinib
|
Guideline |
Actionable |
Pemazyre (pemigatinib) is included in guidelines (category 2A) for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring an FGFR1 rearrangement (NCCN.org).
|
detail...
|
POLE inact mut
|
colon cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with advanced or metastatic colon cancer harboring POLE inactivating mutations (NCCN.org).
|
detail...
|
MLH1 negative
|
thyroid gland follicular carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with follicular thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).
|
detail...
|
MSH2 negative
|
ovary epithelial cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as systemic therapy for patients with recurrent or advanced epithelial ovarian, fallopian tube, or primary peritoneal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
ROS1 rearrange
|
lung non-small cell carcinoma
|
no benefit
|
Afatinib
|
Guideline |
Actionable |
EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) are not indicated for use as subsequent therapy in ROS1 rearranged non-small cell lung cancer patients who relapsed on Alecensa (alectinib), Xalkori (crizotinib), or Zykadia (ceritinib) (NCCN.org).
|
detail...
|
MLH1 mutant
|
rectum cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colorectal cancer (NCCN.org).
|
detail...
|
JAK3 rearrange
|
B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
JAK3 rearrangements are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
PMS2 negative
|
esophagus adenocarcinoma
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
RET fusion
|
thyroid gland follicular carcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines for patients with follicular thyroid carcinoma harboring RET fusions (NCCN.org).
|
detail...
|
CD274 positive
|
cervical cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as second-line therapy for patients with CD274 (PD-L1)-positive cervical cancer (NCCN.org).
|
detail...
|
MLH1 negative
|
stomach cancer
|
sensitive
|
Fluorouracil + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
BRAF V600E
|
rectum cancer
|
resistant
|
Cetuximab
|
Guideline |
Actionable |
Erbitux (cetuximab), as a monotherapy, is not indicated for use in rectum cancer patients with BRAF V600E (NCCN.org).
|
detail...
|
MSH6 mutant
|
rectum cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colorectal cancer (NCCN.org).
|
detail...
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Methylprednisolone + Obinutuzumab
|
Guideline |
Actionable |
Artisone-Wyeth (methylprednisolone) combined with Gazyva (obinutuzumab) is indicated in guidelines as first-line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation and for patients with relapsed or refractory disease after prior BTK inhibitor or Venclexta (venetoclax)-based therapy (NCCN.org).
|
detail...
|
CD274 positive
|
lung non-small cell carcinoma
|
sensitive
|
Carboplatin + Ipilimumab + Nivolumab + Pemetrexed Disodium
|
Guideline |
Actionable |
Combination Paraplatin (carboplatin), Alimta (pemetrexed), Opdivo (nivolumab), and Yervoy (ipilimumab) is in guidelines as first-line therapy for patients with advanced or metastatic non-small cell lung cancer, not otherwise specified, with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
PMS2 negative
|
colon cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MLH1 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line, second-line, or subsequent therapy for patients with microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) esophageal squamous cell carcinoma that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).
|
detail...
|
MSH2 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Capecitabine + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
BRAF V600E
|
anaplastic astrocytoma
|
sensitive
|
Cobimetinib + Vemurafenib
|
Guideline |
Actionable |
Combination of Zelboraf (vemurafenib) and Cotellic (cobimetinib) is included in guidelines for patients with recurrent anaplastic gliomas harboring BRAF V600E, including anaplastic astrocytoma (NCCN.org).
|
detail...
|
ROS1 rearrange
|
lung non-small cell carcinoma
|
no benefit
|
Brigatinib
|
Guideline |
Actionable |
Alunbrig (brigatinib) is not indicated for use in ROS1 rearranged non-small cell lung cancer patients whose disease became resistant to Xalkori (crizotinib) (NCCN.org).
|
detail...
|
TET2 mutant
|
angioimmunoblastic T-cell lymphoma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
TET2 mutations aid in the diagnosis of angioimmunoblastic T-cell lymphoma (NCCN.org).
|
detail...
|
BRAF V600E
|
stomach cancer
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines as second-line or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer harboring BRAF V600E (NCCN.org).
|
detail...
|
CDKN2A mutant
|
skin melanoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline CDKN2A mutations or polymorphisms are associated with increased risk of developing single or multiple primary cutaneous melanomas (NCCN.org).
|
detail...
|
MSH6 negative
|
small intestine adenocarcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as a subsequent therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
ABL1 rearrange
|
childhood B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
ABL1 rearrangements are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
FGFR2 fusion
|
cholangiocarcinoma
|
sensitive
|
Futibatinib
|
Guideline |
Actionable |
Lytgobi (futibatinib) is included in guidelines as subsequent-line therapy (category 2A) for patients with cholangiocarcinoma harboring an FGFR2 fusion or rearrangement (NCCN.org).
|
detail...
|
RET L790X
|
thyroid gland medullary carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline RET L790X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with increased risk of developing thyroid medullary carcinoma (NCCN.org).
|
detail...
|
BRAF V600K
|
skin melanoma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines for melanoma patients harboring a BRAF V600 mutation, such as BRAF V600K, as neoadjuvant or adjuvant therapy for stage III disease and as systemic therapy for patients with unresectable or metastatic disease (NCCN.org).
|
detail...
|
MLH1 negative
|
esophagus adenocarcinoma
|
sensitive
|
Capecitabine + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH2 negative
|
intrahepatic cholangiocarcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy (category 2B) for patients with biliary tract cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including intrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
IDH1 mutant
|
malignant astrocytoma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
IDH1 mutations aid in the diagnosis of grade II and grade III astrocytomas (NCCN.org).
|
detail...
|
MSH6 negative
|
small intestine adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
FLT3 mutant
|
acute myeloid leukemia
|
sensitive
|
Azacitidine + Venetoclax
|
Guideline |
Actionable |
Venclexta (venetoclax) in combination with Vidaza (azacitidine) is included in guidelines for adult patients with acute myeloid leukemia harboring a FLT3 mutation (NCCN.org).
|
detail...
|
FLT3 exon 15 ins
|
acute myeloid leukemia
|
sensitive
|
Quizartinib
|
Guideline |
Actionable |
Vanflyta (quizartinib) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
MSH6 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as second-line or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
ROS1 rearrange
|
lung non-small cell carcinoma
|
no benefit
|
Erlotinib
|
Guideline |
Actionable |
EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) are not indicated for use as subsequent therapy in ROS1 rearranged non-small cell lung cancer patients who relapsed on Alecensa (alectinib), Xalkori (crizotinib), or Zykadia (ceritinib) (NCCN.org).
|
detail...
|
FLT3 exon18
|
acute myeloid leukemia
|
sensitive
|
Gilteritinib
|
Guideline |
Actionable |
Xospata (gilteritinib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
PMS2 negative
|
testicular germ cell cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as a third-line therapy for metastatic testicular germ cell cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH6 negative
|
ovary epithelial cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as systemic therapy for patients with recurrent or advanced epithelial ovarian, fallopian tube, or primary peritoneal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MLH1 negative
|
colon cancer
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as primary or subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
PMS2 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH2 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Fluorouracil + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
BRAF V600E
|
ampulla of Vater adenocarcinoma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines as first-line therapy with good (ECOG 0-1; category 3) or poor (category 2B) performance status, or as subsequent therapy, for metastatic ampullary adenocarcinoma patients harboring BRAF V600E (NCCN.org).
|
detail...
|
MSH6 negative
|
colon cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as preferred primary or subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
CD274 positive
|
esophagus squamous cell carcinoma
|
sensitive
|
Cisplatin + Fluorouracil + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) in combination with first-line chemotherapy including Adrucil (fluorouracil) and Platinol (cisplatin) is included in guidelines as preferred first-line therapy for patients with locally advanced, recurrent, or metastatic esophageal squamous cell carcinoma expressing PD-L1 (CD274) with CPS >/= 10 (category 1) and for patients with CPS <10 (category 2B) (NCCN.org).
|
detail...
|
MLH1 negative
|
rectum cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with advanced or metastatic rectal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH2 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line, second-line, or subsequent therapy for patients with microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) gastroesophageal junction cancer that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).
|
detail...
|
FGFR1 rearrange
|
myeloid and lymphoid neoplasms associated with FGFR1 abnormalities
|
sensitive
|
Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring an FGFR1 rearrangement (NCCN.org).
|
detail...
|
RET fusion
|
pancreatic adenocarcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines as first-line or subsequent therapy for patients with locally advanced, metastatic, or recurrent pancreatic adenocarcinoma harboring RET fusions (NCCN.org).
|
detail...
|
BRAF wild-type
|
rectum cancer
|
predicted - sensitive
|
Panitumumab
|
Guideline |
Actionable |
Vectibix (panitumumab) is included in guidelines for patients with advanced or metastatic rectal cancer that is BRAF wild-type, KRAS wild-type, and NRAS wild-type (NCCN.org).
|
detail...
|
NRAS exon3
|
rectum cancer
|
resistant
|
Panitumumab
|
Guideline |
Actionable |
Vectibix (panitumumab) is not indicated for use in rectum cancer patients with NRAS exon 3 mutations (NCCN.org).
|
detail...
|
RET C618X
|
thyroid gland medullary carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline RET C618X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with high risk of developing thyroid medullary carcinoma (NCCN.org).
|
detail...
|
FLT3 exon17
|
acute myeloid leukemia
|
sensitive
|
Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
STK11 mutant
|
pancreatic cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline mutations in STK11 result in Peutz Jeghers syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org).
|
detail...
|
PMS2 negative
|
rectum cancer
|
sensitive
|
Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) is included in guidelines as a primary therapy for advanced or metastatic rectum cancer patients with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
POLD1 inact mut
|
colon cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with advanced or metastatic colon cancer harboring POLD1 inactivating mutations (NCCN.org).
|
detail...
|
PMS2 negative
|
endometrial carcinoma
|
sensitive
|
Avelumab
|
Guideline |
Actionable |
Bavencio (avelumab) is included in guidelines as a second-line or subsequent-line therapy for patients with high microsatellite instability (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent endometrial carcinoma (NCCN.org).
|
detail...
|
FLT3 exon20
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Daunorubicin + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin), in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine), is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
BRAF V600E
|
Adenocarcinoma of Unknown Primary
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
The combination of Tafinlar (dabrafenib) and Mekinist (trametinib) is included in guidelines for patients with adenocarcinoma of unknown primary harboring BRAF V600E (NCCN.org).
|
detail...
|
CD274 positive
|
lung non-small cell carcinoma
|
sensitive
|
Cemiplimab + Cisplatin + Paclitaxel
|
Guideline |
Actionable |
Combination Platinol (cisplatin), Taxol (paclitaxel), and Libtayo (cemiplimab) is in guidelines as first-line therapy for patients with advanced or metastatic non-small cell lung cancer with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
BRAF fusion
|
skin melanoma
|
sensitive
|
Trametinib
|
Guideline |
Actionable |
Mekinist (trametinib) is included in guidelines as second-line therapy for metastatic or unresectable cutaneous melanoma patients with BRAF fusions (NCCN.org).
|
detail...
|
MSH2 negative
|
thyroid gland follicular carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with follicular thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).
|
detail...
|
BRAF V600E
|
ganglioglioma
|
sensitive
|
Cobimetinib + Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) and Cotellic (cobimetinib) combination therapy is included in guidelines as an adjuvant treatment for patients with ganglioglioma harboring BRAF V600E (NCCN.org).
|
detail...
|
CD274 positive
|
lung adenocarcinoma
|
sensitive
|
Cisplatin + Durvalumab + Pemetrexed Disodium + Tremelimumab
|
Guideline |
Actionable |
Combination Platinol (cisplatin), Alimta (pemetrexed disodium), Imfinzi (durvalumab), and Imjudo (tremelimumab) is in guidelines as first-line therapy for patients with advanced or metastatic lung adenocarcinoma, with CD274 (PD-L1) expression >/=1% - 49% (category 1) or >/= 50% (category 2B), and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Acalabrutinib
|
Guideline |
Actionable |
Calquence (acalabrutinib) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).
|
detail...
|
PMS2 negative
|
intrahepatic cholangiocarcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy (category 2B) for patients with biliary tract cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including intrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
IDH1 mutant
|
glioblastoma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
IDH1 mutations aid in the diagnosis of secondary grade IV glioblastomas (NCCN.org).
|
detail...
|
ALK rearrange
|
lung non-small cell carcinoma
|
sensitive
|
Lorlatinib
|
Guideline |
Actionable |
Lorbrena (lorlatinib) is included in guidelines as preferred first-line therapy and as subsequent therapy for patients with advanced or metastatic ALK-rearranged non-small cell lung cancer (NCCN.org).
|
detail...
|
PMS2 negative
|
pancreatic adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line or subsequent therapy for patients with locally advanced, metastatic, or recurrent pancreatic adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
PMS2 negative
|
ovary epithelial cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy for patients with recurrent epithelial ovarian, fallopian tube, or primary peritoneal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
FLT3 exon20
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
FLT3 exon23
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Daunorubicin + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin), in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine), is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
KIT exon9
|
gastrointestinal stromal tumor
|
sensitive
|
Imatinib
|
Guideline |
Actionable |
Gleevec (imatinib) is included in guidelines for patients with gastrointestinal stromal tumor (GIST) harboring KIT exon 9 mutations (NCCN.org).
|
detail...
|
MSH2 negative
|
extrahepatic bile duct carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as primary therapy and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including extrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
NRAS mutant
|
skin melanoma
|
sensitive
|
Binimetinib
|
Guideline |
Actionable |
Mektovi (binimetinib) is included in guidelines as second-line therapy for patients with metastatic or unresectable cutaneous melanoma harboring an NRAS mutation (NCCN.org).
|
detail...
|
BRAF V600E
|
thyroid gland follicular carcinoma
|
sensitive
|
Dabrafenib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) is included in guidelines for patients with recurrent, advanced, or metastatic thyroid follicular carcinoma harboring BRAF V600E for whom clinical trials are not available or appropriate (NCCN.org).
|
detail...
|
MSH6 negative
|
stomach cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line, second-line, or subsequent therapy for patients with microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) stomach cancer that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).
|
detail...
|
CD274 positive
|
lung large cell carcinoma
|
sensitive
|
Atezolizumab + Bevacizumab + Carboplatin + Paclitaxel
|
Guideline |
Actionable |
Combination Paraplatin (carboplatin), Taxol (paclitaxel), Avastin (bevacizumab), and Tecentriq (atezolizumab) is in guidelines as first-line therapy for patients with advanced or metastatic large cell lung cancer with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Obinutuzumab + Venetoclax
|
Guideline |
Actionable |
The combination of Venclexta (venetoclax) and Gazyva (obinutuzumab) is indicated in the guidelines as first line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).
|
detail...
|
ALK fusion
|
Erdheim-Chester disease
|
sensitive
|
Brigatinib
|
Guideline |
Actionable |
Alunbrig (brigatinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring ALK fusions (NCCN.org).
|
detail...
|
MLH1 negative
|
colon cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
PMS2 negative
|
ovary epithelial cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as systemic therapy for patients with recurrent or advanced epithelial ovarian, fallopian tube, or primary peritoneal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
BRAF V600E
|
salivary gland cancer
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines for patients with recurrent, unresectable, or metastatic salivary gland tumors harboring BRAF V600E (NCCN.org).
|
detail...
|
MLH1 negative
|
chondrosarcoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic chondrosarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
ROS1 rearrange
|
lung non-small cell carcinoma
|
no benefit
|
Osimertinib
|
Guideline |
Actionable |
EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) are not indicated for use as subsequent therapy in ROS1 rearranged non-small cell lung cancer patients who relapsed on Alecensa (alectinib), Xalkori (crizotinib), or Zykadia (ceritinib) (NCCN.org).
|
detail...
|
JAK2 mutant
|
essential thrombocythemia
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
JAK2 mutations aid in the diagnosis of essential thrombocythemia (NCCN.org).
|
detail...
|
MSH6 negative
|
endometrial carcinoma
|
sensitive
|
Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) is included in guidelines as a second-line or subsequent-line therapy for patients with high microsatellite instability (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent endometrial carcinoma (NCCN.org).
|
detail...
|
MSH6 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line, second-line, or subsequent therapy for patients with microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) gastroesophageal junction cancer that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).
|
detail...
|
BRAF V600E
|
skin melanoma
|
sensitive
|
Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) therapy is included in guidelines for cutaneous melanoma patients with unresectable or metastatic disease harboring BRAF V600 activating mutations, such as BRAF V600E, in cases where BRAF/MEK inhibitor combination therapy is contraindicated (NCCN.org).
|
detail...
|
IDH1 wild-type
|
high grade glioma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
IDH1 wild-type is associated with increased risk of aggressive disease in patients with grade II or III infiltrative gliomas (NCCN.org).
|
detail...
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Methylprednisolone + Rituximab
|
Guideline |
Actionable |
Artisone-Wyeth (methylprednisolone) combined with Rituxan (rituximab) is indicated in the guidelines as first-line therapy and second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).
|
detail...
|
CD274 positive
|
lung adenocarcinoma
|
sensitive
|
Carboplatin + Durvalumab + Nab-paclitaxel + Tremelimumab
|
Guideline |
Actionable |
Combination Paraplatin (carboplatin), Abraxane (nab-paclitaxel), Imfinzi (durvalumab), and Imjudo (tremelimumab) is in guidelines as first-line therapy for patients with advanced or metastatic lung adenocarcinoma, with CD274 (PD-L1) expression >/=1% - 49% (category 1) or >/= 50% (category 2B), and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
MSH6 negative
|
small intestine adenocarcinoma
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) in combination with Yervoy (ipilimumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MLH1 mutant
|
pancreatic cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org).
|
detail...
|
FLT3 exon14
|
acute myeloid leukemia
|
sensitive
|
Gilteritinib
|
Guideline |
Actionable |
Xospata (gilteritinib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
FLT3 exon16
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
POLD1 inact mut
|
rectum cancer
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) in combination with Yervoy (ipilimumab) is included in guidelines as systemic therapy for patients with advanced or metastatic rectal cancer harboring POLD1 inactivating mutations (NCCN.org).
|
detail...
|
CD274 positive
|
cervical cancer
|
sensitive
|
Carboplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) combined with Paraplatin (carboplatin) is included in guidelines as first-line therapy for patients with CD274 (PD-L1)-positive cervical cancer (NCCN.org).
|
detail...
|
MSH6 negative
|
sarcoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy for soft tissue sarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), regardless of sarcoma sub-type (NCCN.org).
|
detail...
|
ROS1 rearrange
|
lung non-small cell carcinoma
|
sensitive
|
Lorlatinib
|
Guideline |
Actionable |
Lorbrena (lorlatinib) is included in guidelines as subsequent therapy in patients with advanced or metastatic ROS1-rearranged non-small lung cancer (NCCN.org).
|
detail...
|
PMS2 mutant
|
rectum cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colorectal cancer (NCCN.org).
|
detail...
|
JAK1 mutant
|
childhood B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
JAK1 mutations are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Ibrutinib + Venetoclax
|
Guideline |
Actionable |
Venclexta (venetoclax) combined with Imbruvica (ibrutinib) is indicated in guidelines as first-line, second-line, or third-line therapy (category 2B) for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).
|
detail...
|
ALK rearrange
|
inflammatory myofibroblastic tumor
|
sensitive
|
Alectinib
|
Guideline |
Actionable |
Alecensa (alectinib) is included in guidelines as first-line therapy for patients with advanced, recurrent, metastatic, or inoperable inflammatory myofibroblastic tumor harboring ALK translocations (NCCN.org).
|
detail...
|
PMS2 negative
|
stomach cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line, second-line, or subsequent therapy for patients with microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) stomach cancer that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).
|
detail...
|
RET fusion
|
ampulla of Vater adenocarcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines as first-line or subsequent therapy for patients with metastatic ampullary adenocarcinoma harboring RET fusions (NCCN.org).
|
detail...
|
CBL mutant
|
systemic mastocytosis
|
not applicable
|
N/A
|
Guideline |
Prognostic |
CBL mutations are associated with an adverse prognosis in patients with systemic mastocytosis (NCCN.org).
|
detail...
|
MSH2 negative
|
endometrial carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line or subsequent-line therapy for patients with recurrent or metastatic endometrial carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
ROS1 rearrange
|
lung non-small cell carcinoma
|
no benefit
|
Alectinib
|
Guideline |
Actionable |
Alecensa (alectinib) is not indicated for use in ROS1 rearranged non-small cell lung cancer patients whose disease became resistant to Xalkori (crizotinib) (NCCN.org).
|
detail...
|
KIT act mut
|
skin melanoma
|
sensitive
|
Imatinib
|
Guideline |
Actionable |
Gleevec (imatinib) is included in guidelines as second-line therapy for metastatic or unresectable cutaneous melanoma patients with KIT activating mutations (NCCN.org).
|
detail...
|
PMS2 negative
|
rectum cancer
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) in combination with Yervoy (ipilimumab) is included in guidelines as a primary therapy for advanced or metastatic rectum cancer patients with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MLH1 negative
|
vulva cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as a second-line therapy for patients with MSI high or dMMR (often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) vulva cancer (NCCN.org).
|
detail...
|
MSH2 negative
|
endometrial carcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as first-line or second-line therapy for patients with high microsatellite instability (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent endometrial carcinoma (NCCN.org).
|
detail...
|
FLT3 exon 14 ins
|
acute myeloid leukemia
|
sensitive
|
Azacitidine + Sorafenib
|
Guideline |
Actionable |
Nexavar (sorafenib) in combination with Vidaza (azacitidine) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
FLT3 exon 14 ins
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Daunorubicin + Quizartinib
|
Guideline |
Actionable |
Vanflyta (quizartinib) in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine) is included in guidelines for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
IDH1 mutant
|
high grade glioma
|
not applicable
|
N/A
|
Guideline |
Prognostic |
IDH1 mutations are associated with a favorable prognosis in patients with glioma, and are associated with a survival benefit for patients treated with radiation or alkylator therapy (NCCN.org).
|
detail...
|
MLH1 negative
|
thyroid gland Hurthle cell carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with Hurthle cell thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).
|
detail...
|
RET fusion
|
thyroid gland anaplastic carcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines for patients with anaplastic thyroid carcinoma harboring RET fusions (NCCN.org).
|
detail...
|
RET fusion
|
thyroid gland follicular carcinoma
|
sensitive
|
Pralsetinib
|
Guideline |
Actionable |
Gavreto (pralsetinib) is included in guidelines for patients with follicular thyroid carcinoma harboring RET fusions (NCCN.org).
|
detail...
|
IDH1 mutant
|
polycythemia vera
|
not applicable
|
N/A
|
Guideline |
Prognostic |
IDH1 mutations are associated with inferior overall survival in patients with polycythemia vera (NCCN.org).
|
detail...
|
JAK2 rearrange
|
myeloid neoplasm
|
sensitive
|
Ruxolitinib
|
Guideline |
Actionable |
Jakafi (ruxolitinib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a JAK2 rearrangement (NCCN.org).
|
detail...
|
BRAF V600E
|
anaplastic oligodendroglioma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Combination of Mekinist (trametinib) and Tafinlar (dabrafenib) is included in guidelines for patients with recurrent anaplastic gliomas harboring BRAF V600E, including anaplastic oligodendroglioma (NCCN.org).
|
detail...
|
RET fusion
|
cervical cancer
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines as second-line or subsequent therapy for patients with cervical cancer harboring RET fusions (NCCN.org).
|
detail...
|
ABL1 rearrange
|
myeloid neoplasm
|
sensitive
|
Ponatinib
|
Guideline |
Actionable |
Iclusig (ponatinib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring an ABL1 rearrangement (NCCN.org).
|
detail...
|
MSH6 negative
|
Adenocarcinoma of Unknown Primary
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with adenocarcinoma of unknown primary with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
BRAF V600E/K
|
skin melanoma
|
sensitive
|
Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) and Cotellic (cobimetinib) combination therapy is included in cutaneous melanoma guidelines for patients with metastatic or unresectable disease harboring a BRAF V600 activating mutation (NCCN.org).
|
detail...
|
IDH2 mutant
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Venetoclax
|
Guideline |
Actionable |
Venclexta (venetoclax) in combination with Cytosar-U (cytarabine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH2 mutation (NCCN.org).
|
detail...
|
CD274 positive
|
lung large cell carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is in guidelines as first-line therapy for patients with advanced or metastatic large cell lung cancer with CD274 (PD-L1) expression of 1% to 49% and as preferred first-line therapy with CD274 (PD-L1) expression of 50% or more, and negative for actionable molecular biomarkers; and as continued maintenance and subsequent therapy for patients with CD274 (PD-L1) expression of 1% or more (NCCN.org).
|
detail...
|
BRAF V600E
|
small intestine adenocarcinoma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) in combination with Mekinist (trametinib) is included in guidelines for patients with advanced or metastatic small bowel adenocarcinoma harboring BRAF V600E (NCCN.org).
|
detail...
|
MSH6 negative
|
colon cancer
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as primary or subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
PMS2 negative
|
small intestine adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH2 negative
|
rectum cancer
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) in combination with Yervoy (ipilimumab) is included in guidelines as a primary therapy for advanced or metastatic rectum cancer patients with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
RET fusion
|
esophagus adenocarcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines as second-line or subsequent therapy for patients with locally advanced, recurrent, or metastatic esophageal adenocarcinoma harboring RET fusions (NCCN.org).
|
detail...
|
NRAS mutant
|
myelofibrosis
|
not applicable
|
N/A
|
Guideline |
Prognostic |
NRAS mutations are associated with decreased overall survival in patients with primary myelofibrosis (NCCN.org).
|
detail...
|
BRAF V600E
|
pilocytic astrocytoma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Combination of Mekinist (trametinib) and Tafinlar (dabrafenib) is included in guidelines as an adjuvant treatment for patients with pilocytic astrocytoma harboring BRAF V600E (NCCN.org).
|
detail...
|
NRAS G13X
|
myelodysplastic syndrome
|
not applicable
|
N/A
|
Guideline |
Prognostic |
NRAS G13X is associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org).
|
detail...
|
CD274 positive
|
lung large cell carcinoma
|
sensitive
|
Carboplatin + Durvalumab + Nab-paclitaxel + Tremelimumab
|
Guideline |
Actionable |
Combination Paraplatin (carboplatin), Abraxane (nab-paclitaxel), Imfinzi (durvalumab), and Imjudo (tremelimumab) is in guidelines as first-line therapy for patients with advanced or metastatic large cell lung cancer, with CD274 (PD-L1) expression >/=1% - 49% (category 1) or >/= 50% (category 2B), and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
BRAF V600X
|
skin melanoma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines as neoadjuvant or adjuvant therapy for stage III disease and as second-line or subsequent therapy for patients with metastatic or unresectable cutaneous melanoma harboring a BRAF V600 mutation (NCCN.org).
|
detail...
|
BRAF V600K
|
skin melanoma
|
sensitive
|
Dabrafenib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) therapy is included in guidelines for cutaneous melanoma patients with unresectable or metastatic disease harboring BRAF V600 activating mutations, such as BRAF V600K, in cases where BRAF/MEK inhibitor combination therapy is contraindicated (NCCN.org).
|
detail...
|
JAK2 mutant
|
B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
JAK2 mutations are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
KIT D816X
|
systemic mastocytosis
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
Activating mutations at codon 816 of KIT aid in the diagnosis of systemic mastocytosis (NCCN.org).
|
detail...
|
MSH6 negative
|
chondrosarcoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic chondrosarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH2 negative
|
stomach cancer
|
sensitive
|
Capecitabine + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH2 negative
|
small intestine adenocarcinoma
|
sensitive
|
Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH2 negative
|
Adenocarcinoma of Unknown Primary
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with adenocarcinoma of unknown primary with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
CD274 positive
|
lung large cell carcinoma
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Combination Opdivo (nivolumab) plus Yervoy (ipilimumab) is in guidelines as first-line or continuation maintenance therapy for advanced or metastatic large cell lung cancer patients with CD274 (PD-L1) expression >1% and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Acalabrutinib + Obinutuzumab
|
Guideline |
Actionable |
Calquence (acalabrutinib) combined with Gazyva (obinutuzumab) is indicated in the guidelines as first-line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).
|
detail...
|
MSH2 negative
|
endometrial carcinoma
|
sensitive
|
Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) is included in guidelines as a second-line or subsequent-line therapy for patients with high microsatellite instability (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent endometrial carcinoma (NCCN.org).
|
detail...
|
PMS2 negative
|
esophagus adenocarcinoma
|
sensitive
|
Capecitabine + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MLH1 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Capecitabine + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
CD274 positive
|
gastric adenocarcinoma
|
sensitive
|
Cisplatin + Fluorouracil + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) in combination with a fluoropyrimidine (Adrucil (fluorouracil) or Xeloda (capecitabine)) and platinum-containing chemotherapy (Platinol (cisplatin) or Eloxatin (oxaliplatin)) is included in guidelines as a preferred first-line therapy for patients with locally advanced, unresectable, or metastatic gastric adenocarcinoma expressing CD274 (PD-L1, CPS>/=10; category 1) or CD274 (PD-L1, CPS>/=1 and <10; category 2B) and without ERBB2 (HER2) overexpression (NCCN.org).
|
detail...
|
ALK rearrange
|
anaplastic large cell lymphoma
|
sensitive
|
Ceritinib
|
Guideline |
Actionable |
Zykadia (ceritinib) is included in guidelines as initial, second-line, and subsequent therapy for patients with anaplastic large cell lymphoma harboring ALK rearrangements (NCCN.org).
|
detail...
|
MSH6 mutant
|
stomach cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline mutations in MSH6 result in Lynch syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org).
|
detail...
|
PMS2 mutant
|
endometrial cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline mutations in PMS2 result in Lynch syndrome, which is associated with increased risk of developing endometrial cancer (NCCN.org).
|
detail...
|
NRAS G12X
|
myelodysplastic syndrome
|
not applicable
|
N/A
|
Guideline |
Prognostic |
NRAS G12X is associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org).
|
detail...
|
VHL inact mut
|
renal cell carcinoma
|
sensitive
|
Belzutifan
|
Guideline |
Actionable |
Welireg (belzutifan) is included in guidelines for patients with Von Hippel-Lindau disease-associated renal cell carcinoma that do not require immediate surgery (NCCN.org).
|
detail...
|
ALK rearrange
|
lung non-small cell carcinoma
|
no benefit
|
Pembrolizumab
|
Guideline |
Actionable |
Immune checkpoint inhibitors including Opdivo (nivolumab), Keytruda (pembrolizumab), Tecentriq (atezolizumab), and Imfinzi (durvalumab) are not indicated for use as subsequent therapy in non-small cell lung cancer patients with ALK rearrangement (NCCN.org).
|
detail...
|
BRAF V600E
|
ovary epithelial cancer
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines as systemic therapy for patients with recurrent epithelial ovarian, fallopian tube, or primary peritoneal cancer harboring BRAF V600E (NCCN.org).
|
detail...
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Ibrutinib
|
Guideline |
Actionable |
Imbruvica (ibrutinib) is indicated in the guidelines as first line therapy and second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).
|
detail...
|
CD274 positive
|
cervical cancer
|
sensitive
|
Paclitaxel + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) combined with Taxol (paclitaxel) is included in guidelines as first-line therapy for patients with CD274 (PD-L1)-positive cervical cancer (NCCN.org).
|
detail...
|
RET fusion
|
rectum cancer
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines for patients with metastatic rectum cancer harboring RET fusion (NCCN.org).
|
detail...
|
FLT3 exon14
|
acute myeloid leukemia
|
sensitive
|
Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Obinutuzumab + Venetoclax
|
Guideline |
Actionable |
The combination of Venclexta (venetoclax) and Gazyva (obinutuzumab) is indicated in the guidelines as first line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).
|
detail...
|
TP53 mutant
|
essential thrombocythemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
TP53 mutations are associated with inferior leukemia-free survival in patients with essential thrombocythemia (NCCN.org).
|
detail...
|
CD274 positive
|
lung squamous cell carcinoma
|
sensitive
|
Carboplatin + Cemiplimab + Paclitaxel
|
Guideline |
Actionable |
Combination Paraplatin (carboplatin), Taxol (paclitaxel), and Libtayo (cemiplimab) is in guidelines as first-line therapy for patients with advanced or metastatic squamous cell lung cancer with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
CD274 positive
|
cervical cancer
|
sensitive
|
Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) is included in guidelines as second-line therapy for patients with CD274 (PD-L1)-positive cervical cancer (NCCN.org).
|
detail...
|
CD274 positive
|
lung large cell carcinoma
|
sensitive
|
Cemiplimab + Cisplatin + Pemetrexed Disodium
|
Guideline |
Actionable |
Combination Platinol (cisplatin), Alimta (pemetrexed disodium), and Libtayo (cemiplimab) is in guidelines as first-line therapy for patients with advanced or metastatic large cell lung cancer, with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
ROS1 fusion
|
skin melanoma
|
sensitive
|
Crizotinib
|
Guideline |
Actionable |
Xalkori (crizotinib) is included in guidelines as second-line therapy for metastatic or unresectable cutaneous melanoma patients with ROS1 fusions (NCCN.org).
|
detail...
|
IDH2 mutant
|
oligodendroglioma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
IDH2 mutations aid in the diagnosis of oligodendrogliomas (NCCN.org).
|
detail...
|
MLH1 negative
|
osteosarcoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic osteosarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
JAK1 rearrange
|
B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
JAK1 rearrangements are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
STK11 mutant
|
small intestine adenocarcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Peutz-Jeghers syndrome often results from mutations in the STK11 gene, and is associated with increased risk of developing small bowel adenocarcinoma (NCCN.org).
|
detail...
|
PMS2 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Fluorouracil + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
IDH1 mutant
|
acute myeloid leukemia
|
sensitive
|
Azacitidine
|
Guideline |
Actionable |
Vidaza (azacitidine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH1 mutation (NCCN.org).
|
detail...
|
CTNNB1 mutant
|
desmoid tumor
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
CTNNB1 mutations aid the diagnosis of desmoid tumor (NCCN.org).
|
detail...
|
CD274 positive
|
lung large cell carcinoma
|
sensitive
|
Carboplatin + Pembrolizumab + Pemetrexed Disodium
|
Guideline |
Actionable |
Combination Paraplatin (carboplatin), Alimta (pemetrexed), and Keytruda (pembrolizumab) is in guidelines as preferred first-line therapy for patients with advanced or metastatic non-small cell lung cancer, not otherwise specified, with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
ALK rearrange
|
inflammatory myofibroblastic tumor
|
sensitive
|
Brigatinib
|
Guideline |
Actionable |
Alunbrig (brigatinib) is included in guidelines as first-line therapy for patients with advanced, recurrent, metastatic, or inoperable inflammatory myofibroblastic tumor harboring ALK translocations (NCCN.org).
|
detail...
|
FLT3 exon23
|
acute myeloid leukemia
|
sensitive
|
Gilteritinib
|
Guideline |
Actionable |
Xospata (gilteritinib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Venetoclax
|
Guideline |
Actionable |
Venclexta (venetoclax) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).
|
detail...
|
CD274 positive
|
head and neck cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first- and subsequent-line therapy for patients with CD274 (PD-L1)-positive (CPS >= 1) recurrent, unresectable, or metastatic non-nasopharyngeal head and neck cancer (NCCN.org).
|
detail...
|
BRAF V600E/K
|
skin melanoma
|
sensitive
|
Binimetinib + Encorafenib
|
Guideline |
Actionable |
Braftovi (encorafenib) in combination with Mektovi (binimetinib) is included in guidelines as first-line and second-line therapy for patients with metastatic or unresectable cutaneous melanoma harboring BRAF V600E or V600K mutations (PMID: 30959471; NCCN.org).
|
30959471
detail...
|
MSH6 negative
|
ampulla of Vater adenocarcinoma
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) and Yervoy (ipilimumab) combination therapy is included in guidelines as first-line or subsequent therapy for metastatic ampullary adenocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
CD274 positive
|
lung non-small cell carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is in guidelines as first-line therapy for advanced or metastatic non-small cell lung cancer patients with CD274 (PD-L1) expression 1% to 49% and as preferred first-line therapy with CD274 (PD-L1) expression of 50% or more, and negative for actionable molecular biomarkers; and as continued maintenance and subsequent therapy for patients with CD274 (PD-L1) expression of 1% or more (NCCN.org).
|
detail...
|
IDH1 R132H
|
high grade glioma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
IDH1 R132H is diagnostic and aids in the diagnosis of gliomas (NCCN.org).
|
detail...
|
RET V804M RET Y806C
|
thyroid gland medullary carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Compound germline RET V804M and Y806C mutations result in multiple endocrine neoplasia, type 2B (MEN 2B), which is associated with high risk of developing thyroid medullary carcinoma (NCCN.org).
|
detail...
|
FLT3 exon22
|
acute myeloid leukemia
|
sensitive
|
Gilteritinib
|
Guideline |
Actionable |
Xospata (gilteritinib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
PMS2 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Capecitabine + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
CD274 positive
|
esophagus squamous cell carcinoma
|
sensitive
|
Capecitabine + Cisplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) in combination with first-line chemotherapy including Xeloda (capecitabine) and Platinol (cisplatin) is included in guidelines as preferred first-line therapy for patients with locally advanced, recurrent, or metastatic esophageal squamous cell carcinoma expressing PD-L1 (CD274) with CPS >/= 10 (category 1) and for patients with CPS <10 (category 2B) (NCCN.org).
|
detail...
|
JAK2 mutant
|
myelofibrosis
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
JAK2 mutations aid in the diagnosis of primary myelofibrosis (NCCN.org).
|
detail...
|
CD274 positive
|
lung adenocarcinoma
|
sensitive
|
Carboplatin + Pembrolizumab + Pemetrexed Disodium
|
Guideline |
Actionable |
Combination Paraplatin (carboplatin), Alimta (pemetrexed), and Keytruda (pembrolizumab) is in guidelines as preferred first-line therapy for patients with advanced or metastatic non-small cell lung cancer, not otherwise specified, with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
PMS2 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line, second-line, or subsequent therapy for patients with microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) gastroesophageal junction cancer that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).
|
detail...
|
PMS2 negative
|
small intestine adenocarcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as a subsequent therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
PMS2 negative
|
stomach cancer
|
sensitive
|
Fluorouracil + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH2 negative
|
ampulla of Vater adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line or subsequent therapy for metastatic ampullary adenocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
NRAS wild-type
|
rectum cancer
|
predicted - sensitive
|
Panitumumab
|
Guideline |
Actionable |
Vecitbix (panitumumab), alone and in combination with chemotherapy, is included in guidelines for patients with advanced or metastatic rectal cancer that is BRAF wild-type, KRAS wild-type, and NRAS wild-type (NCCN.org).
|
detail...
|
NRAS exon2
|
rectum cancer
|
resistant
|
Panitumumab
|
Guideline |
Actionable |
Vectibix (panitumumab) is not indicated for use in rectum cancer patients with NRAS exon 2 mutations (NCCN.org).
|
detail...
|
FLT3 exon 15 ins
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
MSH2 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
ATM inact mut
|
prostate cancer
|
sensitive
|
Enzalutamide + Talazoparib
|
Guideline |
Actionable |
Talzenna (talazoparib) plus Xtandi (enzalutamide) is included in guidelines as systemic therapy for patients with metastatic castration-resistant prostate cancer harboring a pathogenic germline or somatic ATM mutation who have not been treated in the setting of castration-resistant prostate cancer (NCCN.org).
|
detail...
|
RET fusion
|
small intestine adenocarcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines for patients with metastatic small bowel adenocarcinoma with RET fusion (NCCN.org).
|
detail...
|
IDH2 mutant
|
acute myeloid leukemia
|
sensitive
|
Decitabine
|
Guideline |
Actionable |
Dacogen (decitabine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH2 mutation (NCCN.org).
|
detail...
|
RET C611X
|
thyroid gland medullary carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline RET C611X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with high risk of developing thyroid medullary carcinoma (NCCN.org).
|
detail...
|
CD274 positive
|
lung squamous cell carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is in guidelines as first-line therapy for patients with advanced or metastatic lung squamous cell carcinoma with CD274 (PD-L1) expression of 1% to 49% and as preferred first-line therapy with CD274 (PD-L1) expression of 50% or more, and negative for actionable molecular biomarkers; and as continued maintenance and subsequent therapy for patients with CD274 (PD-L1) expression of 1% or more (NCCN.org).
|
detail...
|
CD274 positive
|
bladder urothelial carcinoma
|
sensitive
|
Atezolizumab
|
Guideline |
Actionable |
Tecentriq (atezolizumab) is included in guidelines as a first-line therapy (category 2B) for cisplatin-ineligible bladder urothelial carcinoma patients with immune cell CD274 (PD-L1) expression greater than or equal to 5% (NCCN.org).
|
detail...
|
FLT3 exon21
|
acute myeloid leukemia
|
sensitive
|
Gilteritinib
|
Guideline |
Actionable |
Xospata (gilteritinib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
BRAF V600E
|
colon cancer
|
sensitive
|
Cetuximab + Encorafenib
|
Guideline |
Actionable |
Braftovi (encorafenib) in combination with Erbitux (cetuximab) is included in guidelines as primary or subsequent therapy for patients with colon cancer harboring BRAF V600E (NCCN.org).
|
detail...
|
PMS2 negative
|
thyroid gland papillary carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with papillary thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).
|
detail...
|
CD274 positive
|
triple-receptor negative breast cancer
|
sensitive
|
Nab-paclitaxel + Pembrolizumab
|
Guideline |
Actionable |
Combination of Keytruda (pembrolizumab) and Abraxane (nab-paclitaxel) is included in guidelines for patients with recurrent or metastatic CD274 (PD-L1)-positive (CPS >or= 10) triple-receptor negative breast cancer (NCCN.org).
|
detail...
|
KIT act mut
|
gastrointestinal stromal tumor
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
KIT activating mutations aid the diagnosis of gastrointestinal stromal tumor (NCCN.org).
|
detail...
|
KMT2A rearrange
|
acute myeloid leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
KMT2A rearrangements (t(v;11q23.3)) are associated with a poor/adverse prognosis in patients with non-APL acute myeloid leukemia (NCCN.org).
|
detail...
|
JAK2 V617F
|
polycythemia vera
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
JAK2 V617F aids in the diagnosis of polycythemia vera (NCCN.org).
|
detail...
|
BRAF V600E
|
Erdheim-Chester disease
|
sensitive
|
Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) is included in guidelines as preferred first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring BRAF V600E (NCCN.org).
|
detail...
|
CD274 positive
|
lung large cell carcinoma
|
sensitive
|
Atezolizumab + Carboplatin + Nab-paclitaxel
|
Guideline |
Actionable |
Combination Paraplatin (carboplatin), Abraxane (nab-paclitaxel), and Tecetriq (atezolizumab) is in guidelines as first-line therapy for patients with large cell lung cancer with CD274 (PD-L1) expression of greater than or equal to 1%, and negative status for EGFR, ALK, ROS1, BRAF, RET, and MET exon 14 skipping mutations (NCCN.org).
|
detail...
|
PMS2 negative
|
esophagus adenocarcinoma
|
sensitive
|
Fluorouracil + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
BRAF V600X
|
skin melanoma
|
sensitive
|
Dabrafenib + Pembrolizumab + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) plus Mekinist (trametinib) in combination with an immune checkpoint inhibitor, such as Keytruda (pembrolizumab), is included in guidelines as second-line or subsequent therapy (category 2A) for patients with metastatic or unresectable cutaneous melanoma harboring a BRAF V600 mutation (NCCN.org).
|
detail...
|
RET M918X
|
thyroid gland medullary carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline RET M918X mutations result in multiple endocrine neoplasia, type 2B (MEN 2B), which is associated with high risk of developing thyroid medullary carcinoma (NCCN.org).
|
detail...
|
MSH2 negative
|
ampulla of Vater adenocarcinoma
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) and Yervoy (ipilimumab) combination therapy is included in guidelines as first-line or subsequent therapy for metastatic ampullary adenocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH2 negative
|
thyroid gland medullary carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with medullary thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).
|
detail...
|
MSH6 negative
|
extrahepatic bile duct carcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy (category 2B) for patients with biliary tract cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including extrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
BRAF V600K
|
skin melanoma
|
sensitive
|
Cobimetinib + Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) and Cotellic (cobimetinib) combination therapy is included in cutaneous melanoma guidelines for patients with metastatic or unresectable disease harboring a BRAF V600 activating mutation (NCCN.org).
|
detail...
|
FLT3 rearrange
|
B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
FLT3 rearrangements are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
FLT3 rearrange
|
childhood B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
FLT3 rearrangements are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
CD274 positive
|
lung adenocarcinoma
|
sensitive
|
Cisplatin + Pembrolizumab + Pemetrexed Disodium
|
Guideline |
Actionable |
Combination Platinol (cisplatin), Alimta (pemetrexed disodium), and Keytruda (pembrolizumab) is in guidelines as preferred first-line therapy for patients with advanced or metastatic lung adenocarcinoma with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
PMS2 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
IDH1 mutant
|
myelofibrosis
|
not applicable
|
N/A
|
Guideline |
Prognostic |
IDH1 mutations are associated with inferior leukemia-free survival in patients with myelofibrosis (NCCN.org).
|
detail...
|
CD274 positive
|
lung adenocarcinoma
|
sensitive
|
Carboplatin + Cemiplimab + Pemetrexed Disodium
|
Guideline |
Actionable |
Combination Paraplatin (carboplatin), Alimta (pemetrexed disodium), and Libtayo (cemiplimab) is in guidelines as first-line therapy for patients with advanced or metastatic lung adenocarcinoma, with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
ABL1 rearrange
|
myeloid neoplasm
|
sensitive
|
Imatinib
|
Guideline |
Actionable |
Gleevec (imatinib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a ABL1 rearrangement (NCCN.org).
|
detail...
|
POLD1 inact mut
|
rectum cancer
|
sensitive
|
Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) is included in guidelines as systemic therapy for patients with advanced or metastatic rectal cancer harboring POLD1 inactivating mutations (NCCN.org).
|
detail...
|
POLD1 inact mut
|
colon cancer
|
sensitive
|
Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) is included in guidelines as systemic therapy for patients with advanced or metastatic colon cancer harboring POLD1 inactivating mutations (NCCN.org).
|
detail...
|
BRAF V600E
|
colon cancer
|
sensitive
|
Encorafenib + Panitumumab
|
Guideline |
Actionable |
Braftovi (encorafenib) in combination with Vectibix (panitumumab) is included in guidelines as primary or subsequent therapy for patients with colon cancer harboring BRAF V600E (NCCN.org).
|
detail...
|
IDH1 mutant
|
acute myeloid leukemia
|
sensitive
|
Decitabine
|
Guideline |
Actionable |
Dacogen (decitabine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH1 mutation (NCCN.org).
|
detail...
|
BRAF V600K
|
skin melanoma
|
sensitive
|
Atezolizumab + Cobimetinib + Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) plus Cotellic (cobimetinib) in combination with an immune checkpoint inhibitor, such as Tecentriq (atezolizumab), is included in guidelines as second-line or subsequent therapy (category 2A) for patients with metastatic or unresectable cutaneous melanoma harboring a BRAF V600 mutation, such as BRAF V600K (NCCN.org).
|
detail...
|
MLH1 negative
|
small intestine adenocarcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as a subsequent therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
CD274 positive
|
nasopharynx carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as a subsequent-line therapy for patients with CD274 (PD-L1)-positive, recurrent or metastatic nasopharynx cancer (NCCN.org).
|
detail...
|
BRAF V600E
|
pleomorphic xanthoastrocytoma
|
sensitive
|
Cobimetinib + Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) and Cotellic (cobimetinib) combination therapy is included in guidelines as an adjuvant treatment for patients with pleomorphic xanthoastrocytoma harboring BRAF V600E (NCCN.org).
|
detail...
|
CD274 positive
|
gastric adenocarcinoma
|
sensitive
|
Capecitabine + Cisplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) in combination with a fluoropyrimidine (Xeloda (capecitabine) or Adrucil (fluorouracil)) and platinum-containing chemotherapy (Platinol (cisplatin) or Eloxatin (oxaliplatin)) is included in guidelines as a preferred first-line therapy for patients with locally advanced, unresectable, or metastatic gastric adenocarcinoma expressing CD274 (PD-L1, CPS>/=10; category 1) or CD274 (PD-L1, CPS>/=1 and <10; category 2B) and without ERBB2 (HER2) overexpression (NCCN.org).
|
detail...
|
BRAF V600E
|
neuroendocrine tumor
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Mekinist (trametinib) and Tafinlar (dabrafenib) combination therapy is included in guidelines for patients with unresectable or metastatic extrapulmonary poorly differentiated neuroendocrine carcinoma, large or small cell carcinoma, or mixed neuroendocrine/non-neuroendocrine neoplasms harboring BRAF V600E who have progressed on or following prior treatment (NCCN.org).
|
detail...
|
ALK fusion
|
Erdheim-Chester disease
|
sensitive
|
Lorlatinib
|
Guideline |
Actionable |
Lorbrena (lorlatinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring ALK fusions (NCCN.org).
|
detail...
|
CD274 positive
|
lung non-small cell carcinoma
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Combination Opdivo (nivolumab) plus Yervoy (ipilimumab) is in guidelines as first-line or continuation maintenance therapy for advanced or metastatic non-small cell lung cancer patients with CD274 (PD-L1) expression >1% and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
MSH6 negative
|
colon cancer
|
sensitive
|
Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) is included in guidelines as primary or subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
APC mutant
|
small intestine adenocarcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Familial adenomatous polyposis results from germline mutations in the APC gene, and is associated with increased risk of developing small bowel adenocarcinoma (NCCN.org).
|
detail...
|
FLT3 exon 14 ins
|
acute myeloid leukemia
|
sensitive
|
Gilteritinib
|
Guideline |
Actionable |
Xospata (gilteritinib) is included in the guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
MLH1 mutant
|
colon cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colon cancer (NCCN.org).
|
detail...
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Lenalidomide + Rituximab
|
Guideline |
Actionable |
Revlimid (lenalidomide) combined with Rituxan (rituximab) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).
|
detail...
|
MLH1 mutant
|
endometrial carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of developing endometrial carcinoma (NCCN.org).
|
detail...
|
MLH1 negative
|
stomach cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced or metastatic gastric cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH6 negative
|
intrahepatic cholangiocarcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy (category 2B) for patients with biliary tract cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including intrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
ALK rearrange
|
lung non-small cell carcinoma
|
sensitive
|
Ceritinib
|
Guideline |
Actionable |
Zykadia (ceritinib) is included in guidelines as first-line and as subsequent therapy for patients with advanced or metastatic ALK-rearranged non-small cell lung cancer (NCCN.org).
|
detail...
|
KIT D816V
|
systemic mastocytosis
|
not applicable
|
N/A
|
Guideline |
Prognostic |
KIT D816V is associated with an adverse prognosis in patients with systemic mastocytosis (NCCN.org).
|
detail...
|
MSH6 negative
|
stomach cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced or metastatic gastric cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
PMS2 negative
|
endometrial carcinoma
|
sensitive
|
Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) is included in guidelines as a second-line or subsequent-line therapy for patients with high microsatellite instability (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent endometrial carcinoma (NCCN.org).
|
detail...
|
CD274 positive
|
lung squamous cell carcinoma
|
sensitive
|
Carboplatin + Nab-paclitaxel + Pembrolizumab
|
Guideline |
Actionable |
Combination Paraplatin (carboplatin), Abraxane (nab-paclitaxel), and Keytruda (pembrolizumab) is in guidelines as preffered first-line therapy for patients with advanced or metastatic lung squamous cell carcinoma with CD274 (PD-L1) expression of greater than or equal to 1% and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
MLH1 negative
|
ampulla of Vater adenocarcinoma
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) and Yervoy (ipilimumab) combination therapy is included in guidelines as first-line or subsequent therapy for metastatic ampullary adenocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH6 negative
|
stomach cancer
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
PMS2 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Fluorouracil + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
CTNNB1 mutant
|
medulloblastoma
|
not applicable
|
N/A
|
Guideline |
Prognostic |
WNT-driven medulloblastomas, characterized by CTNNB1 or APC mutations, are associated with favorable prognosis (NCCN.org).
|
detail...
|
CD274 positive
|
triple-receptor negative breast cancer
|
sensitive
|
Carboplatin + Gemcitabine + Pembrolizumab
|
Guideline |
Actionable |
Combination of Keytruda (pembrolizumab), Paraplatin (carboplatin), and Gemzar (gemcitabine) is included in guidelines for patients with recurrent or metastatic CD274 (PD-L1)-positive (CPS >or= 10) triple-receptor negative breast cancer (NCCN.org).
|
detail...
|
MSH6 negative
|
neuroendocrine tumor
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) locally advanced or metastatic well-differentiated, Grade 3 neuroendocrine tumors or unresectable or metastatic extrapulmonary poorly differentiated neuroendocrine carcinoma, large or small cell carcinoma, or mixed neuroendocrine/non-neuroendocrine neoplasms who have progressed on or following prior treatment (NCCN.org).
|
detail...
|
FLT3 exon16
|
acute myeloid leukemia
|
sensitive
|
Gilteritinib
|
Guideline |
Actionable |
Xospata (gilteritinib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
RET fusion
|
neuroendocrine tumor
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines for patients with unresectable or metastatic extrapulmonary poorly differentiated neuroendocrine carcinoma, large or small cell carcinoma, or mixed neuroendocrine/non-neuroendocrine neoplasms harboring RET fusions who have progressed on or following prior treatment (NCCN.org).
|
detail...
|
MSH2 negative
|
cervical cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as preferred second-line or subsequent therapy for patients with cervical cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
FLT3 exon19
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Daunorubicin + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin), in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine), is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
MSH6 negative
|
esophagus adenocarcinoma
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
BRAF V600E
|
thyroid gland follicular carcinoma
|
sensitive
|
Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) is included in guidelines for patients with recurrent, advanced, or metastatic thyroid follicular carcinoma harboring BRAF V600E for whom clinical trials are not available or appropriate (NCCN.org).
|
detail...
|
FLT3 exon16
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Daunorubicin + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin), in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine), is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
VHL mutant
|
islet cell tumor
|
sensitive
|
Belzutifan
|
Guideline |
Actionable |
Welireg (belzutifan) is included in guidelines for patients with well-differentiated Grade 1/2 progressive pancreatic neuroendocrine tumors harboring germline VHL mutations (NCCN.org).
|
detail...
|
MLH1 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MLH1 negative
|
penile cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as subsequent-line systemic therapy for metastatic/recurrent penile cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
ALK rearrange
|
lung non-small cell carcinoma
|
sensitive
|
Alectinib
|
Guideline |
Actionable |
Alecensa (alectinib) is included in guidelines as preferred first-line therapy and as subsequent therapy for patients with ALK-rearranged advanced or metastatic non-small cell lung cancer (NCCN.org).
|
detail...
|
MLH1 negative
|
ovary epithelial cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy for patients with recurrent epithelial ovarian, fallopian tube, or primary peritoneal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
FLT3 rearrange
|
myeloid neoplasm
|
sensitive
|
Sunitinib
|
Guideline |
Actionable |
Sutent (sunitinib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a FLT3 rearrangement (NCCN.org).
|
detail...
|
RET fusion
|
intrahepatic cholangiocarcinoma
|
sensitive
|
Pralsetinib
|
Guideline |
Actionable |
Gavreto (pralsetinib) is included in guidelines as primary (category 2B) and subsequent-line therapy (category 2B) for patients with unresectable or metastatic biliary tract cancer harboring RET fusions, including intrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
CD274 over exp
|
lung adenocarcinoma
|
sensitive
|
Atezolizumab
|
Guideline |
Actionable |
Tecentriq (atezolizumab) is included in guidelines as preferred first-line therapy for patients with advanced or metastatic lung adenocarcinoma with CD274 (PD-L1) expression of at least 50% and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
MSH2 negative
|
rectum cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as a preferred primary therapy for advanced or metastatic rectum cancer patients with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
PMS2 negative
|
Ewing sarcoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic Ewing sarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MLH1 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Capecitabine + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH2 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
CD274 positive
|
lung large cell carcinoma
|
sensitive
|
Cisplatin + Durvalumab + Pemetrexed Disodium + Tremelimumab
|
Guideline |
Actionable |
Combination Platinol (cisplatin), Alimta (pemetrexed disodium), Imfinzi (durvalumab), and Imjudo (tremelimumab) is in guidelines as first-line therapy for patients with advanced or metastatic large cell lung cancer, with CD274 (PD-L1) expression >/=1% - 49% (category 1) or >/= 50% (category 2B), and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
PMS2 negative
|
thyroid gland Hurthle cell carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with Hurthle cell thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).
|
detail...
|
BRAF V600E
|
thyroid gland follicular carcinoma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
The combination of Tafinlar (dabrafenib) and Mekinist (trametinib) is included in guidelines for patients with follicular thyroid carcinoma harboring BRAF V600E who have progressed on therapy and have no further treatment options (NCCN.org).
|
detail...
|
MSH2 negative
|
stomach cancer
|
sensitive
|
Durvalumab + Tremelimumab
|
Guideline |
Actionable |
Imfinzi (durvalumab), in combination with Imjudo (tremelimumab, is included in guidelines as neoadjuvant therapy for patients with gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
PMS2 negative
|
ampulla of Vater adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line or subsequent therapy for metastatic ampullary adenocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH6 negative
|
stomach cancer
|
sensitive
|
Capecitabine + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
ROS1 fusion
|
skin melanoma
|
sensitive
|
Entrectinib
|
Guideline |
Actionable |
Rozlytrek (entrectinib) is included in guidelines as second-line therapy for metastatic or unresectable cutaneous melanoma patients with ROS1 fusions (NCCN.org).
|
detail...
|
PMS2 negative
|
gallbladder cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as primary therapy and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including gallbladder cancer (NCCN.org).
|
detail...
|
MLH1 negative
|
prostate adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as a second-line therapy for patients with advanced or metastatic prostate adenocarcinoma cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
PMS2 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH2 negative
|
esophagus adenocarcinoma
|
sensitive
|
Capecitabine + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MLH1 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Fluorouracil + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
PMS2 mutant
|
stomach cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline mutations in PMS2 result in Lynch syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org).
|
detail...
|
RET fusion
|
salivary gland cancer
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines for patients with recurrent, unresectable, or metastatic salivary gland tumors harboring RET fusions (NCCN.org).
|
detail...
|
IDH2 mutant
|
anaplastic astrocytoma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
IDH2 mutations aid in the diagnosis of grade III astrocytomas (NCCN.org).
|
detail...
|
PMS2 negative
|
stomach cancer
|
sensitive
|
Capecitabine + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MLH1 negative
|
neuroendocrine tumor
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) locally advanced or metastatic well-differentiated, Grade 3 neuroendocrine tumors or unresectable or metastatic extrapulmonary poorly differentiated neuroendocrine carcinoma, large or small cell carcinoma, or mixed neuroendocrine/non-neuroendocrine neoplasms who have progressed on or following prior treatment (NCCN.org).
|
detail...
|
FGFR3 mutant
|
transitional cell carcinoma
|
sensitive
|
Erdafitinib
|
Guideline |
Actionable |
Balversa (erdafitinib) is included in the guidelines for patients with advanced or metastatic urothelial carcinoma harboring Fgfr3 alterations after progression on platinum-based regimens (NCCN.org).
|
detail...
|
ALK fusion
|
Erdheim-Chester disease
|
sensitive
|
Ceritinib
|
Guideline |
Actionable |
Zykadia (ceritinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring ALK fusions (NCCN.org).
|
detail...
|
CD274 positive
|
lung non-small cell carcinoma
|
sensitive
|
Cisplatin + Durvalumab + Pemetrexed Disodium + Tremelimumab
|
Guideline |
Actionable |
Combination Platinol (cisplatin), Alimta (pemetrexed disodium), Imfinzi (durvalumab), and Imjudo (tremelimumab) is in guidelines as first-line therapy for patients with advanced or metastatic non-small cell lung cancer, not otherwise specified, with CD274 (PD-L1) expression >/=1% - 49% (category 1) or >/= 50% (category 2B), and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
RET C620X
|
thyroid gland medullary carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline RET C620X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with high risk of developing thyroid medullary carcinoma (NCCN.org).
|
detail...
|
FLT3 exon 15 ins
|
acute myeloid leukemia
|
sensitive
|
Gilteritinib
|
Guideline |
Actionable |
Xospata (gilteritinib) is included in the guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
MSH2 negative
|
thyroid gland papillary carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with papillary thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).
|
detail...
|
MSH6 negative
|
hepatocellular carcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) hepatocellular carcinoma (NCCN.org).
|
detail...
|
CD274 positive
|
cervical cancer
|
sensitive
|
Cisplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) combined with Platinol (cisplatin) is included in guidelines as first-line therapy for patients with CD274 (PD-L1)-positive cervical cancer (NCCN.org).
|
detail...
|
CD274 positive
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Cisplatin + Fluorouracil + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) in combination with first-line chemotherapy including Adrucil (fluorouracil) and Platinol (cisplatin) is included in guidelines as preferred first-line therapy for patients with locally advanced, recurrent, or metastatic ERBB2 (HER2) overexpression negative gastroesophageal junction adenocarcinoma expressing PD-L1 (CD274) with CPS >/= 10 (category 1) or with CPS <10 (category 2B) (NCCN.org).
|
detail...
|
ABL1 rearrange
|
myeloid neoplasm
|
sensitive
|
Bosutinib
|
Guideline |
Actionable |
Bosulif (bosutinib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring an ABL1 rearrangement (NCCN.org).
|
detail...
|
CD274 positive
|
head and neck squamous cell carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line therapy for patients with CD274 (PD-L1)-positive recurrent, unresectable, or metastatic non-nasopharyngeal head and neck squamous cell carcinoma (NCCN.org).
|
detail...
|
JAK3 mutant
|
B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
JAK3 mutations are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
DNMT3A mutant
|
myelofibrosis
|
not applicable
|
N/A
|
Guideline |
Prognostic |
DNMT3A mutations are associated with inferior overall survival in patients with primary myelofibrosis (NCCN.org).
|
detail...
|
ALK rearrange
|
lung non-small cell carcinoma
|
no benefit
|
Erlotinib
|
Guideline |
Actionable |
EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) are not indicated for use as subsequent therapy in ALK rearranged non-small cell lung cancer patients who relapsed on Alecensa (alectinib), Xalkori (crizotinib), or Zykadia (ceritinib) (NCCN.org).
|
detail...
|
RET fusion
|
ovary epithelial cancer
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines as systemic therapy for patients with recurrent epithelial ovarian, fallopian tube, or primary peritoneal cancer harboring a RET fusion (NCCN.org).
|
detail...
|
MLH1 negative
|
esophagus adenocarcinoma
|
sensitive
|
Fluorouracil + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
TP53 mutant
|
nephroblastoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline mutations in TP53 result in Li-Fraumeni syndrome, which is associated with increased risk of developing Wilms tumor (nephroblastoma) (NCCN.org).
|
detail...
|
MLH1 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Durvalumab + Tremelimumab
|
Guideline |
Actionable |
Imfinzi (durvalumab), in combination with Imjudo (tremelimumab), is included in guidelines as neoadjuvant therapy for patients with gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
CD274 positive
|
lung non-small cell carcinoma
|
sensitive
|
Carboplatin + Pembrolizumab + Pemetrexed Disodium
|
Guideline |
Actionable |
Combination Paraplatin (carboplatin), Alimta (pemetrexed), and Keytruda (pembrolizumab) is in guidelines as preferred first-line therapy for patients with advanced or metastatic non-small cell lung cancer, not otherwise specified, with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
MSH2 negative
|
testicular germ cell cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as a third-line therapy for metastatic testicular germ cell cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
BRAF V600X
|
skin melanoma
|
sensitive
|
Dabrafenib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) therapy is included in guidelines for patients with unresectable or metastatic cutaneous melanoma harboring BRAF V600 activating mutations, in cases where BRAF/MEK inhibitor combination therapy is contraindicated (NCCN.org).
|
detail...
|
FLT3 exon 14 ins
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
IDH2 mutant
|
acute myeloid leukemia
|
sensitive
|
Enasidenib
|
Guideline |
Actionable |
Idhifa (enasidenib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring an IDH2 mutation (NCCN.org).
|
detail...
|
BRAF L597X
|
melanoma
|
sensitive
|
Trametinib
|
Guideline |
Actionable |
Mekinist (trametinib) is included in guidelines as second-line therapy for metastatic or unresectable cutaneous melanoma patients with BRAF L597 mutations (NCCN.org).
|
detail...
|
MLH1 inact mut
|
prostate cancer
|
sensitive
|
Enzalutamide + Talazoparib
|
Guideline |
Actionable |
Talzenna (talazoparib) plus Xtandi (enzalutamide) is included in guidelines as systemic therapy for patients with metastatic castration-resistant prostate cancer harboring a pathogenic germline or somatic MLH1 mutation who have not been treated in the setting of castration-resistant prostate cancer (NCCN.org).
|
detail...
|
MSH2 negative
|
esophagus adenocarcinoma
|
sensitive
|
Capecitabine + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
POLE inact mut
|
colon cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy for patients with advanced or metastatic colon cancer harboring POLE inactivating mutations (NCCN.org).
|
detail...
|
NRAS mutant
|
Erdheim-Chester disease
|
sensitive
|
Trametinib
|
Guideline |
Actionable |
Mekinist (trametinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring mutations in the MAPK pathway such as ARAF, NRAS, KRAS, MAP2K1/2, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN.org).
|
detail...
|
FLT3 exon 15 ins
|
acute myeloid leukemia
|
sensitive
|
Decitabine + Sorafenib
|
Guideline |
Actionable |
Nexavar (sorafenib) in combination with Dacogen (decitabine) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
BRAF V600E
|
skin melanoma
|
sensitive
|
Cobimetinib + Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) and Cotellic (cobimetinib) combination therapy is included in cutaneous melanoma guidelines for patients with metastatic or unresectable disease harboring a BRAF V600 activating mutation (NCCN.org).
|
detail...
|
ALK rearrange
|
inflammatory myofibroblastic tumor
|
sensitive
|
Ceritinib
|
Guideline |
Actionable |
Zykadia (ceritinib) is included in guidelines as first-line therapy for patients with advanced, recurrent, metastatic, or inoperable inflammatory myofibroblastic tumor harboring ALK translocations (NCCN.org).
|
detail...
|
MSH6 negative
|
Ewing sarcoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic Ewing sarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
ALK rearrange
|
anaplastic large cell lymphoma
|
sensitive
|
Brigatinib
|
Guideline |
Actionable |
Alunbrig (brigatinib) is included in guidelines as initial, second-line, and subsequent therapy for patients with anaplastic large cell lymphoma harboring ALK rearrangements (NCCN.org).
|
detail...
|
POLE inact mut
|
colorectal cancer
|
not applicable
|
N/A
|
Guideline |
Prognostic |
POLE inactivating mutations are associated with a more favorable prognosis in patients with colorectal cancer (NCCN.org).
|
detail...
|
POLD1 inact mut
|
colorectal cancer
|
not applicable
|
N/A
|
Guideline |
Prognostic |
POLD1 inactivating mutations are associated with a more favorable prognosis in patients with colorectal cancer (NCCN.org).
|
detail...
|
TET2 mutant
|
myelofibrosis
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
TET2 mutations aid in the diagnosis of primary myelofibrosis in the absence of JAK2, CALR, or MPL mutations (NCCN.org).
|
detail...
|
IDH1 act mut
|
chondrosarcoma
|
sensitive
|
Ivosidenib
|
Guideline |
Actionable |
Tibsovo (ivosidenib) is included in guidelines as systemic therapy for patients with conventional or dedifferentiated chondrosarcoma harboring an IDH1 activating mutation (NCCN.org).
|
detail...
|
BRAF V600X
|
skin melanoma
|
sensitive
|
Cobimetinib + Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) and Cotellic (cobimetinib) combination therapy is included in guidelines as a second-line or subsequent therapy for patients with metastatic or unresectable cutaneous melanoma harboring a BRAF V600 activating mutation (NCCN.org).
|
detail...
|
BRAF V600E
|
lung non-small cell carcinoma
|
sensitive
|
Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) is included in guidelines as a first-line therapy for advanced or metastatic non-small cell lung cancer patients harboring BRAF V600E mutations who can not tolerate the combination of Mekinist (trametinib) and Tafinlar (dabrafenib) (NCCN.org).
|
detail...
|
JAK1 mutant
|
B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
JAK1 mutations are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
POLE inact mut
|
colon cancer
|
sensitive
|
Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) is included in guidelines as systemic therapy for patients with advanced or metastatic colon cancer harboring POLE inactivating mutations (NCCN.org).
|
detail...
|
PMS2 negative
|
endometrial carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line or subsequent-line therapy for patients with recurrent or metastatic endometrial carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
BRAF V600E
|
appendix adenocarcinoma
|
sensitive
|
Cetuximab + Encorafenib
|
Guideline |
Actionable |
Braftovi (encorafenib) in combination with Erbitux (cetuximab) is included in guidelines for patients with advanced or metastatic appendiceal adenocarcinoma harboring BRAF V600E (NCCN.org).
|
detail...
|
FLT3 exon 15 ins
|
acute myeloid leukemia
|
sensitive
|
Azacitidine + Sorafenib
|
Guideline |
Actionable |
Nexavar (sorafenib) in combination with Vidaza (azacitidine) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
RET fusion
|
extrahepatic bile duct carcinoma
|
sensitive
|
Pralsetinib
|
Guideline |
Actionable |
Gavreto (pralsetinib) is included in guidelines as primary (category 2B) and subsequent-line therapy (category 2B) for patients with unresectable or metastatic biliary tract cancer harboring RET fusions, including extrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
MSH6 mutant
|
endometrial carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline mutations in MSH6 result in Lynch syndrome, which is associated with increased risk of developing endometrial carcinoma (NCCN.org).
|
detail...
|
BRAF V600E
|
thyroid gland Hurthle cell carcinoma
|
sensitive
|
Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) is included in guidelines for patients with recurrent, advanced, or metastatic thyroid Hurthle cell carcinoma harboring BRAF V600E for whom clinical trials are not available or appropriate (NCCN.org).
|
detail...
|
CD274 positive
|
lung non-small cell carcinoma
|
sensitive
|
Carboplatin + Durvalumab + Nab-paclitaxel + Tremelimumab
|
Guideline |
Actionable |
Combination Paraplatin (carboplatin), Abraxane (nab-paclitaxel), Imfinzi (durvalumab), and Imjudo (tremelimumab) is in guidelines as first-line therapy for patients with advanced or metastatic non-small cell lung cancer, not otherwise specified, with CD274 (PD-L1) expression >/=1% - 49% (category 1) or >/= 50% (category 2B), and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Rituximab + Venetoclax
|
Guideline |
Actionable |
Venclexta (venetoclax) combined with Rituxan (rituximab) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).
|
detail...
|
POLE inact mut
|
colorectal carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline POLE inactivating mutations result in polymerase proofreading-associated polyposis and are associated with increased risk of developing colorectal carcinoma (NCCN.org).
|
detail...
|
PMS2 negative
|
stomach cancer
|
sensitive
|
Capecitabine + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
PIK3CA mutant
|
Erdheim-Chester disease
|
sensitive
|
Sirolimus
|
Guideline |
Actionable |
Rapamune (sirolimus) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring PIK3CA mutations (NCCN.org).
|
detail...
|
JAK2 rearrange
|
myeloid neoplasm
|
sensitive
|
Fedratinib
|
Guideline |
Actionable |
Inrebic (fendratinib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a JAK2 rearrangement (NCCN.org).
|
detail...
|
ALK rearrange
|
inflammatory myofibroblastic tumor
|
sensitive
|
Lorlatinib
|
Guideline |
Actionable |
Lorbrena (lorlatinib) is included in guidelines as first-line therapy for patients with advanced, recurrent, metastatic, or inoperable inflammatory myofibroblastic tumor harboring ALK translocations (NCCN.org).
|
detail...
|
PMS2 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line, second-line, or subsequent therapy for patients with microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) esophageal squamous cell carcinoma that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).
|
detail...
|
MSH2 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line, second-line, or subsequent therapy for patients with microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) esophageal squamous cell carcinoma that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).
|
detail...
|
PMS2 negative
|
chondrosarcoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic chondrosarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
CD274 positive
|
lung adenocarcinoma
|
sensitive
|
Carboplatin + Ipilimumab + Nivolumab + Pemetrexed Disodium
|
Guideline |
Actionable |
Combination Paraplatin (carboplatin), Alimta (pemetrexed), Opdivo (nivolumab), and Yervoy (ipilimumab) is in guidelines as first-line therapy for patients with advanced or metastatic lung adenocarcinoma with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
CD274 positive
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Fluorouracil + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) in combination with first-line chemotherapy including Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as preferred first-line therapy for patients with locally advanced, recurrent, or metastatic ERBB2 (HER2) overexpression negative gastroesophageal junction adenocarcinoma expressing PD-L1 (CD274) with CPS >/= 10 (category 1) or with CPS <10 (category 2B) (NCCN.org).
|
detail...
|
MLH1 negative
|
colon cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as preferred primary or subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH6 negative
|
extrahepatic bile duct carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as primary therapy and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including extrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
RET E768X
|
thyroid gland medullary carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline RET E768X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with increased risk of developing thyroid medullary carcinoma (NCCN.org).
|
detail...
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Idelalisib
|
Guideline |
Actionable |
Zydelig (idelalisib) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).
|
detail...
|
MLH1 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MLH1 negative
|
endometrial carcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as first-line or second-line therapy for patients with high microsatellite instability (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent endometrial carcinoma (NCCN.org).
|
detail...
|
ALK rearrange
|
anaplastic large cell lymphoma
|
sensitive
|
Alectinib
|
Guideline |
Actionable |
Alecensa (alectinib) is included in guidelines as second-line and subsequent therapy for patients with anaplastic large cell lymphoma harboring ALK rearrangements (NCCN.org).
|
detail...
|
NRAS exon3
|
colon cancer
|
resistant
|
Cetuximab
|
Guideline |
Actionable |
Erbitux (cetuximab) is not indicated for use in colon cancer patients with NRAS exon 3 mutations (NCCN.org).
|
detail...
|
RET fusion
|
stomach cancer
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines as second-line or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer harboring RET fusion (NCCN.org). (NCCN.org).
|
detail...
|
NRAS wild-type
|
colon cancer
|
predicted - sensitive
|
Panitumumab
|
Guideline |
Actionable |
Vectibix (panitumumab), alone and in combination with chemotherapy, is included in guidelines for patients with advanced or metastatic colon cancer that is BRAF wild-type, KRAS wild-type, and NRAS wild-type (NCCN.org).
|
detail...
|
PMS2 negative
|
sarcoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy for soft tissue sarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), regardless of sarcoma sub-type (NCCN.org).
|
detail...
|
PMS2 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Capecitabine + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
CD274 positive
|
lung large cell carcinoma
|
sensitive
|
Carboplatin + Durvalumab + Pemetrexed Disodium + Tremelimumab
|
Guideline |
Actionable |
Combination Paraplatin (carboplatin), Alimta (pemetrexed disodium), Imfinzi (durvalumab), and Imjudo (tremelimumab) is in guidelines as first-line therapy for patients with advanced or metastatic large cell lung cancer, with CD274 (PD-L1) expression >/=1% - 49% (category 1) or >/= 50% (category 2B), and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
BRAF V600E
|
colon cancer
|
resistant
|
Cetuximab
|
Guideline |
Actionable |
Erbitux (cetuximab), as a monotherapy, is not indicated for use in colon cancer patients with BRAF V600E (NCCN.org).
|
detail...
|
ALK rearrange
|
lung non-small cell carcinoma
|
no benefit
|
Atezolizumab
|
Guideline |
Actionable |
Immune checkpoint inhibitors including Opdivo (nivolumab), Keytruda (pembrolizumab), Tecentriq (atezolizumab), and Imfinzi (durvalumab) are not indicated for use as subsequent therapy in non-small cell lung cancer patients with ALK rearrangement (NCCN.org).
|
detail...
|
FLT3 exon21
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Daunorubicin + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin), in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine), is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
FLT3 rearrange
|
myeloid neoplasm
|
sensitive
|
Sorafenib
|
Guideline |
Actionable |
Nexavar (sorafenib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a FLT3 rearrangement (NCCN.org).
|
detail...
|
FLT3 exon 14 ins
|
acute myeloid leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
FLT3 internal tandem duplication (FLT3-ITD) mutations are associated with inferior prognosis in acute myeloid leukemia patients with normal karyotype (NCCN.org).
|
detail...
|
IDH1 mutant
|
acute myeloid leukemia
|
sensitive
|
Ivosidenib
|
Guideline |
Actionable |
Tibsovo (ivosidenib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring an IDH1 mutation (NCCN.org).
|
detail...
|
KIT exon11
|
gastrointestinal stromal tumor
|
sensitive
|
Imatinib
|
Guideline |
Actionable |
Gleevec (imatinib) is included in guidelines for patients with gastrointestinal stromal tumor (GIST) harboring KIT exon 11 mutations (NCCN.org).
|
detail...
|
ALK rearrange
|
anaplastic large cell lymphoma
|
sensitive
|
Crizotinib
|
Guideline |
Actionable |
Xalkori (crizotinib) is included in guidelines as second-line and subsequent therapy for patients with anaplastic large cell lymphoma harboring ALK rearrangements (NCCN.org).
|
detail...
|
BRAF V600E
|
high grade glioma
|
sensitive
|
Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) is included in guidelines as adjuvant therapy for pediatric patients with diffuse high-grade gliomas harboring BRAF V600E, or as a preferred regimen for patients with recurrent or progressive disease (NCCN.org).
|
detail...
|
MLH1 negative
|
thyroid gland medullary carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with medullary thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).
|
detail...
|
MSH6 negative
|
Adenocarcinoma of Unknown Primary
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines for patients with adenocarcinoma of unknown primary with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
RET Y791X
|
thyroid gland medullary carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline RET Y791X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with increased risk of developing thyroid medullary carcinoma (NCCN.org).
|
detail...
|
RET fusion
|
gallbladder cancer
|
sensitive
|
Pralsetinib
|
Guideline |
Actionable |
Gavreto (pralsetinib) is included in guidelines as primary (category 2B) and subsequent-line therapy (category 2B) for patients with unresectable or metastatic biliary tract cancer harboring RET fusions, including gallbladder cancer (NCCN.org).
|
detail...
|
MSH6 negative
|
thyroid gland medullary carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with medullary thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).
|
detail...
|
CD274 positive
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Capecitabine + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab) in combination with first-line chemotherapy including Xeloda (capecitabine) and Eloxatin (oxaliplatin), is included in guidelines as preferred first-line therapy for patients with locally advanced, recurrent, or metastatic ERBB2 (HER2) overexpression negative gastroesophageal junction adenocarcinoma expressing PD-L1 (CD274) with CPS >/= 5 (category 1) or with CPS < 5 (category 2B) (NCCN.org).
|
detail...
|
IDH1 mutant
|
myelofibrosis
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
IDH1 mutations aid in the diagnosis of primary myelofibrosis in the absence of JAK2, CALR, or MPL mutations (NCCN.org).
|
detail...
|
IDH2 R172X
|
myelodysplastic syndrome
|
not applicable
|
N/A
|
Guideline |
Prognostic |
IDH2 R172X is associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org).
|
detail...
|
PMS2 negative
|
rectum cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as a preferred primary therapy for advanced or metastatic rectum cancer patients with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
BRAF V600E
|
appendix adenocarcinoma
|
sensitive
|
Encorafenib + Panitumumab
|
Guideline |
Actionable |
Braftovi (encorafenib) in combination with Vectibix (panitumumab) is included in guidelines for patients with advanced or metastatic appendiceal adenocarcinoma harboring BRAF V600E (NCCN.org).
|
detail...
|
CD274 positive
|
lung non-small cell carcinoma
|
sensitive
|
Atezolizumab + Carboplatin + Nab-paclitaxel
|
Guideline |
Actionable |
Combination Paraplatin (carboplatin), Abraxane (nab-paclitaxel), and Tecetriq (atezolizumab) is in guidelines as first-line therapy for non-small cell lung cancer patients with CD274 (PD-L1) expression of greater than or equal to 1% (NCCN.org)
|
detail...
|
CD274 positive
|
lung adenocarcinoma
|
sensitive
|
Atezolizumab + Bevacizumab + Carboplatin + Paclitaxel
|
Guideline |
Actionable |
Combination Paraplatin (carboplatin), Taxol (paclitaxel), Avastin (bevacizumab), and Tecentriq (atezolizumab) is in guidelines as first-line therapy for patients with advanced or metastatic lung adenocarcinoma with CD274 (PD-L1) expression of greater than or equal to 1% and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
BRAF V600E
|
hairy cell leukemia
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
BRAF V600E is diagnostic and aids in distinguishing classic hairy cell leukemia (cHCL) from variant hairy cell leukemia (HCLv) and other B-cell lymphomas and leukemias (PMID: 29118233, NCCN.org).
|
detail...
29118233
|
IDH2 mutant
|
essential thrombocythemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
The presence of at least one mutation in either SH2B3, IDH2, U2AF1, SRSF2, SF3B1, EZH2, TP53, or RUNX1 is associated with inferior overall survival in patients with essential thrombocythemia (NCCN.org).
|
detail...
|
FGFR1 rearrange
|
myeloid and lymphoid neoplasms associated with FGFR1 abnormalities
|
sensitive
|
Ponatinib
|
Guideline |
Actionable |
Iclusig (ponatinib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring an FGFR1 rearrangement (NCCN.org).
|
detail...
|
RET rearrange
|
lung non-small cell carcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is in guidelines as a first-line and subsequent therapy for patients with advanced or metastatic non-small cell lung cancer harboring RET rearrangements (NCCN.org).
|
detail...
|
MSH2 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Capecitabine + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
FGFR1 rearrange
|
B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
FGFR1 rearrangements are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
BRAF V600E
|
pleomorphic xanthoastrocytoma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Mekinist (trametinib) and Tafinlar (dabrafenib) combination therapy is included in guidelines as an adjuvant treatment for patients with pleomorphic xanthoastrocytoma harboring BRAF V600E (NCCN.org).
|
detail...
|
ALK rearrange
|
lung non-small cell carcinoma
|
no benefit
|
Afatinib
|
Guideline |
Actionable |
EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) are not indicated for use as subsequent therapy in ALK rearranged non-small cell lung cancer patients who relapsed on Alecensa (alectinib), Xalkori (crizotinib), or Zykadia (ceritinib) (NCCN.org).
|
detail...
|
MSH6 negative
|
rectum cancer
|
sensitive
|
Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) is included in guidelines as a primary therapy for advanced or metastatic rectum cancer patients with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
PMS2 negative
|
osteosarcoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic osteosarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH6 negative
|
endometrial carcinoma
|
sensitive
|
Avelumab
|
Guideline |
Actionable |
Bavencio (avelumab) is included in guidelines as a second-line or subsequent-line therapy for patients with high microsatellite instability (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent endometrial carcinoma (NCCN.org).
|
detail...
|
MAP2K1 mutant
|
Erdheim-Chester disease
|
sensitive
|
Cobimetinib
|
Guideline |
Actionable |
Cotellic (cobimetinib) is included in guidelines as preferred first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring mutations in the MAPK pathway such as ARAF, NRAS, KRAS, MAP2K1/2, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN.org).
|
detail...
|
IDH1 mutant
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Venetoclax
|
Guideline |
Actionable |
Venclexta (venetoclax) in combination with Cytosar-U (cytarabine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH1 mutation (NCCN.org).
|
detail...
|
CDK12 inact mut
|
prostate cancer
|
sensitive
|
Olaparib
|
Guideline |
Actionable |
Lynparza (olaparib) is included in guidelines as second-line therapy post androgen receptor-directed therapy for patients with metastatic castration-resistant prostate cancer harboring pathogenic mutations in CDK12 (NCCN.org).
|
detail...
|
MSH2 negative
|
stomach cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line, second-line, or subsequent therapy for patients with microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) stomach cancer that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).
|
detail...
|
NRAS exon4
|
colon cancer
|
resistant
|
Cetuximab
|
Guideline |
Actionable |
Erbitux (cetuximab) is not indicated for use in colon cancer patients with NRAS exon 4 mutations (NCCN.org).
|
detail...
|
MLH1 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH6 negative
|
breast cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines for patients with metastatic or unresectable breast cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) who have progressed on or following prior treatment (NCCN.org).
|
detail...
|
ROS1 rearrange
|
lung non-small cell carcinoma
|
no benefit
|
Gefitinib
|
Guideline |
Actionable |
EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) are not indicated for use as subsequent therapy in ROS1 rearranged non-small cell lung cancer patients who relapsed on Alecensa (alectinib), Xalkori (crizotinib), or Zykadia (ceritinib) (NCCN.org).
|
detail...
|
BRAF V600E
|
pancreatic adenocarcinoma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines as first-line therapy for patients with locally advanced (category 2A) or metastatic (category 2B) pancreatic adenocarcinoma harboring BRAF V600E, and as subsequent-line therapy for patients with locally advanced, recurrent, or metastatic disease (category 2A) (NCCN.org).
|
detail...
|
MSH2 negative
|
penile cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as subsequent-line systemic therapy for metastatic/recurrent penile cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
CD274 positive
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Capecitabine + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) in combination with first-line chemotherapy including Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as preferred first-line therapy for patients with locally advanced, recurrent, or metastatic ERBB2 (HER2) overexpression negative gastroesophageal junction adenocarcinoma expressing PD-L1 (CD274) with CPS >/= 10 (category 1) or with CPS <10 (category 2B) (NCCN.org).
|
detail...
|
FLT3 exon 15 ins
|
acute myeloid leukemia
|
sensitive
|
Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
CD274 positive
|
lung large cell carcinoma
|
sensitive
|
Cisplatin + Pembrolizumab + Pemetrexed Disodium
|
Guideline |
Actionable |
Combination Platinol (cisplatin), Alimta (pemetrexed disodium), and Keytruda (pembrolizumab) is in guidelines as preferred first-line therapy for patients with advanced or metastatic large cell lung cancer with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
FLT3 exon19
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Rituximab + Venetoclax
|
Guideline |
Actionable |
Venclexta (venetoclax) combined with Rituxan (rituximab) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).
|
detail...
|
MLH1 negative
|
stomach cancer
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
PMS2 negative
|
Squamous Cell Carcinoma of Unknown Primary
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with squamous cell carcinoma of unknown primary with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH2 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Fluorouracil + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
POLE inact mut
|
colon cancer
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) in combination with Yervoy (ipilimumab) is included in guidelines as systemic therapy for patients with advanced or metastatic colon cancer harboring POLE inactivating mutations (NCCN.org).
|
detail...
|
PMS2 negative
|
chordoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic chordoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
PMS2 negative
|
breast cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines for patients with metastatic or unresectable breast cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) who have progressed on or following prior treatment (NCCN.org).
|
detail...
|
MLH1 negative
|
stomach cancer
|
sensitive
|
Capecitabine + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
ALK rearrange
|
anaplastic large cell lymphoma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
ALK rearrangement aids in the diagnosis of anaplastic large cell lymphoma (NCCN.org).
|
detail...
|
ABL1 rearrange
|
myeloid neoplasm
|
sensitive
|
Nilotinib
|
Guideline |
Actionable |
Tasigna (nilotinib) is included in guidelines as a preferred regimen for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a ABL1 rearrangement (NCCN.org).
|
detail...
|
MSH6 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Capecitabine + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
FLT3 exon17
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Daunorubicin + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin), in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine), is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
PMS2 negative
|
esophagus adenocarcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH6 negative
|
pancreatic adenocarcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with locally advanced, metastatic, or recurrent pancreatic adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) who have not received prior immunotherapy (NCCN.org).
|
detail...
|
FLT3 exon22
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Daunorubicin + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin), in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine), is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
MSH2 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Durvalumab + Tremelimumab
|
Guideline |
Actionable |
Imfinzi (durvalumab), in combination with Imjudo (tremelimumab), is included in guidelines as neoadjuvant therapy for patients with gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
NRAS exon3
|
rectum cancer
|
resistant
|
Cetuximab
|
Guideline |
Actionable |
Erbitux (cetuximab) is not indicated for use in rectum cancer patients with NRAS exon 3 mutations (NCCN.org).
|
detail...
|
RET fusion
|
Squamous Cell Carcinoma of Unknown Primary
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines for patients with squamous cell carcinoma of unknown primary harboring RET fusions (NCCN.org).
|
detail...
|
BRAF fusion
|
pilocytic astrocytoma
|
sensitive
|
Selumetinib
|
Guideline |
Actionable |
Koselugo (selumetinib) is included in guidelines for patients with recurrent or progressive pilocytic astrocytoma harboring a BRAF fusion (NCCN.org).
|
detail...
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Pirtobrutinib
|
Guideline |
Actionable |
Jaypirca (pirtobrutinib) is included in guidelines as second-line or third-line therapy for patients with chronic lymphocytic leukemia/small lymphocytic lymphoma with TP53 loss and for patients with relapsed or refractory disease after prior BTK inhibitor and Venclexta (venetoclax)-based therapy (NCCN.org).
|
detail...
|
MSH2 mutant
|
rectum cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colorectal cancer (NCCN.org).
|
detail...
|
MLH1 negative
|
endometrial carcinoma
|
sensitive
|
Avelumab
|
Guideline |
Actionable |
Bavencio (avelumab) is included in guidelines as a second-line or subsequent-line therapy for patients with high microsatellite instability (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent endometrial carcinoma (NCCN.org).
|
detail...
|
MLH1 negative
|
rectum cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as a preferred primary therapy for advanced or metastatic rectum cancer patients with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH2 negative
|
esophagus adenocarcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
CD274 positive
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Capecitabine + Cisplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) in combination with first-line chemotherapy including Xeloda (capecitabine) and Platinol (cisplatin) is included in guidelines as preferred first-line therapy for patients with locally advanced, recurrent, or metastatic ERBB2 (HER2) overexpression negative gastroesophageal junction adenocarcinoma expressing PD-L1 (CD274) with CPS >/= 10 (category 1) or with CPS <10 (category 2B) (NCCN.org).
|
detail...
|
MSH2 negative
|
prostate adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as a second-line therapy for patients with advanced or metastatic prostate adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
BRAF V600E
|
thyroid gland Hurthle cell carcinoma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
The combination of Tafinlar (dabrafenib) and Mekinist (trametinib) is included in guidelines for patients with thryoid Hürthle cell carcinoma harboring BRAF V600E who have progressed on therapy and have no further treatment options (NCCN.org).
|
detail...
|
MLH1 negative
|
esophagus adenocarcinoma
|
sensitive
|
Fluorouracil + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
PIK3CA mutant
|
Erdheim-Chester disease
|
sensitive
|
Trametinib
|
Guideline |
Actionable |
Mekinist (trametinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring mutations in the MAPK pathway such as ARAF, NRAS, KRAS, MAP2K1/2, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN.org).
|
detail...
|
MSH2 mutant
|
pancreatic cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline mutations in MSH2 result in Lynch syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org).
|
detail...
|
PMS2 negative
|
extrahepatic bile duct carcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy (category 2B) for patients with biliary tract cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including extrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
FLT3 exon 15 ins
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Daunorubicin + Quizartinib
|
Guideline |
Actionable |
Vanflyta (quizartinib) in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine) is included in guidelines for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
BRAF V600E
|
glioblastoma
|
sensitive
|
Cobimetinib + Vemurafenib
|
Guideline |
Actionable |
Combination of Zelboraf (vemurafenib) and Cotellic (cobimetinib) is included in guidelines for patients with recurrent glioblastoma harboring BRAF V600E (NCCN.org).
|
detail...
|
APC mutant
|
desmoid tumor
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
APC mutations aid the diagnosis of desmoid tumor (NCCN.org).
|
detail...
|
MSH6 negative
|
thyroid gland Hurthle cell carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with Hurthle cell thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).
|
detail...
|
MSH2 negative
|
stomach cancer
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
FGFR2 fusion
|
cholangiocarcinoma
|
sensitive
|
Pemigatinib
|
Guideline |
Actionable |
Pemazyre (pemigatinib) is included in guidelines as subsequent-line therapy for patients with cholangiocarcinoma harboring FGFR2 fusions or rearrangements (NCCN.org).
|
detail...
|
BRAF wild-type
|
colon cancer
|
predicted - sensitive
|
Cetuximab
|
Guideline |
Actionable |
Erbitux (cetuximab), alone and in combination with chemotherapy, is included in guidelines for patients with advanced or metastatic colon cancer that is BRAF wild-type, KRAS wild-type, and NRAS wild-type (NCCN.org).
|
detail...
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Venetoclax
|
Guideline |
Actionable |
Venclexta (venetoclax) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).
|
detail...
|
ALK rearrange
|
inflammatory myofibroblastic tumor
|
sensitive
|
Crizotinib
|
Guideline |
Actionable |
Xalkori (crizotinib) is included in guidelines as first-line therapy for patients with advanced, recurrent, metastatic, or inoperable inflammatory myofibroblastic tumor harboring ALK translocations (NCCN.org).
|
detail...
|
MLH1 negative
|
small intestine adenocarcinoma
|
sensitive
|
Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
FLT3 exon15
|
acute myeloid leukemia
|
sensitive
|
Gilteritinib
|
Guideline |
Actionable |
Xospata (gilteritinib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
NRAS exon3
|
colon cancer
|
resistant
|
Panitumumab
|
Guideline |
Actionable |
Vectibix (panitumumab) is not indicated for use in colon cancer patients with NRAS exon 3 mutations (NCCN.org).
|
detail...
|
JAK3 rearrange
|
childhood B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
JAK3 rearrangements are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
MSH6 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Capecitabine + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
CD274 over exp
|
lung non-small cell carcinoma
|
sensitive
|
Cemiplimab
|
Guideline |
Actionable |
Libtayo (cemiplimab) is included in guidelines as preferred first-line therapy for patients with advanced or metastatic non-small cell lung cancer, not otherwise specified, with CD274 (PD-L1) expression of at least 50% and negative for actionable molecular biomarkers; and as continued maintenance therapy (NCCN.org).
|
detail...
|
MSH2 negative
|
bone cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as a systemic therapy for patients with unresectable or metastatic bone cancer with high microsatellite instability (MSI-H) or mismatch repair deficiency (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
PMS2 negative
|
rectum cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with advanced or metastatic rectal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
PMS2 negative
|
esophagus adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line, second-line, or subsequent therapy for patients with microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) esophageal adenocarcinoma that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).
|
detail...
|
FLT3 exon18
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Daunorubicin + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin), in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine), is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
IDH2 mutant
|
myelofibrosis
|
not applicable
|
N/A
|
Guideline |
Prognostic |
IDH2 mutations are associated with inferior leukemia-free survival in patients with myelofibrosis (NCCN.org).
|
detail...
|
NRAS exon2
|
colon cancer
|
resistant
|
Cetuximab
|
Guideline |
Actionable |
Erbitux (cetuximab) is not indicated for use in colon cancer patients with NRAS exon 2 mutations (NCCN.org).
|
detail...
|
PMS2 negative
|
small intestine adenocarcinoma
|
sensitive
|
Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
JAK3 mutant
|
childhood B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
JAK3 mutations are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
RET fusion
|
esophagus squamous cell carcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines as second-line or subsequent therapy for patients with locally advanced, recurrent, or metastatic esophageal squamous cell carcinoma harboring RET fusions (NCCN.org).
|
detail...
|
PMS2 negative
|
pancreatic adenocarcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with locally advanced, metastatic, or recurrent pancreatic adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) who have not received prior immunotherapy (NCCN.org).
|
detail...
|
MLH1 negative
|
pancreatic adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line or subsequent therapy for patients with locally advanced, metastatic, or recurrent pancreatic adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH2 negative
|
stomach cancer
|
sensitive
|
Fluorouracil + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
FLT3 exon15
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Daunorubicin + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin), in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine), is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
BRAF V600E
|
skin melanoma
|
sensitive
|
Dabrafenib + Pembrolizumab + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) plus Mekinist (trametinib) in combination with an immune checkpoint inhibitor, such as Keytruda (pembrolizumab), is included in guidelines as second-line or subsequent therapy (category 2A) for patients with metastatic or unresectable cutaneous melanoma harboring a BRAF V600 mutation, such as BRAF V600E (NCCN.org).
|
detail...
|
RET fusion
|
thyroid gland medullary carcinoma
|
sensitive
|
Pralsetinib
|
Guideline |
Actionable |
Gavreto (pralsetinib) is included in guidelines as systemic therapy for patients with medullary thyroid carcinoma harboring RET fusions (NCCN.org).
|
detail...
|
MLH1 negative
|
rectum cancer
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) in combination with Yervoy (ipilimumab) is included in guidelines as a primary therapy for advanced or metastatic rectum cancer patients with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Duvelisib
|
Guideline |
Actionable |
Copiktra (duvelisib) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).
|
detail...
|
MLH1 negative
|
intrahepatic cholangiocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as primary therapy and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including intrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Alemtuzumab + Rituximab
|
Guideline |
Actionable |
Campath (alemtuzumab) combined with Rituxan (rituximab) is indicated in guidelines as therapy for patients with relapsed or refractory chronic lymphocytic leukemia/small lymphocytic lymphoma with TP53 loss who received prior treatment with a BTK inhibitor or Venclexta (venetoclax)-based therapy (NCCN.org).
|
detail...
|
JAK2 rearrange
|
B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
JAK2 rearrangements are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
MSH6 negative
|
stomach cancer
|
sensitive
|
Fluorouracil + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH6 negative
|
ovarian germ cell cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as recurrence therapy for patients with malignant ovarian germ cell tumors with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH6 mutant
|
colon cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colon cancer (NCCN.org).
|
detail...
|
ROS1 rearrange
|
lung non-small cell carcinoma
|
sensitive
|
Repotrectinib
|
Guideline |
Actionable |
Augtyro (repotrectinib) is included in guidelines as first-line or subsequent therapy for patients with advanced or metastatic non-small cell lung cancer harboring a ROS1 rearrangement (NCCN.org).
|
detail...
|
MSH6 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
RET C609X
|
thyroid gland medullary carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline RET C609X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with increased risk of developing thyroid medullary carcinoma (NCCN.org).
|
detail...
|
BRAF V600K
|
skin melanoma
|
sensitive
|
Dabrafenib + Pembrolizumab + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) plus Mekinist (trametinib) in combination with an immune checkpoint inhibitor, such as Keytruda (pembrolizumab), is included in guidelines as second-line or subsequent therapy (category 2A) for patients with metastatic or unresectable cutaneous melanoma harboring a BRAF V600 mutation, such as BRAF V600K (NCCN.org).
|
detail...
|
MLH1 negative
|
ovary epithelial cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as systemic therapy for patients with recurrent or advanced epithelial ovarian, fallopian tube, or primary peritoneal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
CD274 positive
|
vulva cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as a second-line therapy for patients with CD274 (PD-L1)-positive (CPS >= 1) vulva cancer (NCCN.org).
|
detail...
|
TP53 mutant
|
essential thrombocythemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
The presence of at least one mutation in either SH2B3, IDH2, U2AF1, SRSF2, SF3B1, EZH2, TP53, or RUNX1 is associated with inferior overall survival in patients with essential thrombocythemia (NCCN.org).
|
detail...
|
PMS2 negative
|
colon cancer
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as primary or subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH6 negative
|
endometrial carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line or subsequent-line therapy for patients with recurrent or metastatic endometrial carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
RET fusion
|
thyroid gland papillary carcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines for patients with papillary thyroid carcinoma harboring RET fusions (NCCN.org).
|
detail...
|
POLD1 inact mut
|
colon cancer
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) in combination with Yervoy (ipilimumab) is included in guidelines as systemic therapy for patients with advanced or metastatic colon cancer harboring POLD1 inactivating mutations (NCCN.org).
|
detail...
|
PMS2 mutant
|
colon cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colon cancer (NCCN.org).
|
detail...
|
CD274 positive
|
lung large cell carcinoma
|
sensitive
|
Carboplatin + Cemiplimab + Pemetrexed Disodium
|
Guideline |
Actionable |
Combination Paraplatin (carboplatin), Alimta (pemetrexed disodium), and Libtayo (cemiplimab) is in guidelines as first-line therapy for patients with advanced or metastatic large cell lung cancer, with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Idelalisib
|
Guideline |
Actionable |
Zydelig (idelalisib) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).
|
detail...
|
RET rearrange
|
lung non-small cell carcinoma
|
sensitive
|
Cabozantinib
|
Guideline |
Actionable |
Cometriq (cabozantinib) is in guidelines as a first-line and subsequent therapy for patients with advanced or metastatic non-small cell lung cancer harboring RET rearrangements (NCCN.org).
|
detail...
|
MLH1 mutant
|
stomach cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of early onset of gastric cancer (NCCN.org).
|
detail...
|
CD274 positive
|
lung adenocarcinoma
|
sensitive
|
Cisplatin + Ipilimumab + Nivolumab + Pemetrexed Disodium
|
Guideline |
Actionable |
Combination Platinol (cisplatin), Alimta (pemetrexed), Opdivo (nivolumab), and Yervoy (ipilimumab) is in guidelines as first-line therapy for patients with advanced or metastatic lung adenocarcinoma with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
VHL inact mut
|
islet cell tumor
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline inactivating mutations in VHL result in von Hippel-Lindau (VHL) syndrome, which is associated with increased risk of developing pancreatic neuroendocrine tumors (NCCN.org).
|
detail...
|
BRAF V600E
|
thyroid gland papillary carcinoma
|
sensitive
|
Dabrafenib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) is included in guidelines for patients with recurrent, advanced, or metastatic thyroid papillary carcinoma harboring BRAF V600E for whom clinical trials are not available or appropriate (NCCN.org).
|
detail...
|
ALK rearrange
|
lung non-small cell carcinoma
|
no benefit
|
Durvalumab
|
Guideline |
Actionable |
Immune checkpoint inhibitors including Opdivo (nivolumab), Keytruda (pembrolizumab), Tecentriq (atezolizumab), and Imfinzi (durvalumab) are not indicated for use as subsequent therapy in non-small cell lung cancer patients with ALK rearrangement (NCCN.org).
|
detail...
|
CD274 positive
|
esophageal cancer
|
sensitive
|
Cisplatin + Fluorouracil + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) in combination with first-line chemotherapy including Adrucil (fluorouracil) and Platinol (cisplatin) is included in guidelines as preferred first-line therapy for patients with locally advanced, recurrent, or metastatic ERBB2 (HER2) overexpression negative esophageal adenocarcinoma expressing PD-L1 (CD274) with CPS >/= 10 (category 1) or with CPS <10 (category 2B) (NCCN.org).
|
detail...
|
MSH2 negative
|
colon cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as preferred primary or subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
FLT3 exon 14 ins
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Daunorubicin + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine) is included in guidelines for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
NRAS exon4
|
rectum cancer
|
resistant
|
Cetuximab
|
Guideline |
Actionable |
Erbitux (cetuximab) is not indicated for use in rectum cancer patients with NRAS exon 4 mutations (NCCN.org).
|
detail...
|
MSH2 negative
|
hepatocellular carcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) hepatocellular carcinoma (NCCN.org).
|
detail...
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Obinutuzumab
|
Guideline |
Actionable |
Gazyva (obinutuzumab) is indicated in the guidelines as first line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).
|
detail...
|
PMS2 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Fluorouracil + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
FLT3 exon 14 ins
|
acute myeloid leukemia
|
sensitive
|
Decitabine + Sorafenib
|
Guideline |
Actionable |
Nexavar (sorafenib) in combination with Dacogen (decitabine) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
TP53 mutant
|
osteosarcoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline mutations in TP53 result in Li-Fraumeni syndrome, which is associated with increased risk of developing osteosarcoma (NCCN.org).
|
detail...
|
POLD1 inact mut
|
rectum cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy for patients with advanced or metastatic rectal cancer harboring POLD1 inactivating mutations (NCCN.org).
|
detail...
|
FLT3 exon14
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
PMS2 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Capecitabine + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
IDH1 mutant
|
oligodendroglioma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
IDH1 mutations aid in the diagnosis of oligodendrogliomas (NCCN.org).
|
detail...
|
MSH6 negative
|
ampulla of Vater adenocarcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for metastatic ampullary adenocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH2 negative
|
stomach cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced or metastatic gastric cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
FLT3 exon 15 ins
|
myelodysplastic syndrome
|
not applicable
|
N/A
|
Guideline |
Prognostic |
FLT3 internal tandem duplication (FLT3-ITD) mutations are associated with poor prognosis in patients with myelodysplastic syndrome (NCCN.org).
|
detail...
|
FLT3 exon 14 ins
|
acute myeloid leukemia
|
sensitive
|
Sorafenib
|
Guideline |
Actionable |
Nexavar (sorafenib) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
MSH2 negative
|
small intestine adenocarcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as a subsequent therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
CD274 positive
|
lung adenocarcinoma
|
sensitive
|
Atezolizumab + Carboplatin + Nab-paclitaxel
|
Guideline |
Actionable |
Combination Paraplatin (carboplatin), Abraxane (nab-paclitaxel), and Tecetriq (atezolizumab) is in guidelines as first-line therapy for patients with lung adenocarcinoma with CD274 (PD-L1) expression of greater than or equal to 1%, and negative status for EGFR, ALK, ROS1, BRAF, RET, and MET exon 14 skipping mutations (NCCN.org).
|
detail...
|
IDH2 mutant
|
acute myeloid leukemia
|
sensitive
|
Azacitidine
|
Guideline |
Actionable |
Vidaza (azacitidine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH2 mutation (NCCN.org).
|
detail...
|
MLH1 negative
|
esophagus adenocarcinoma
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
NRAS mutant
|
Erdheim-Chester disease
|
sensitive
|
Cobimetinib
|
Guideline |
Actionable |
Cotellic (cobimetinib) is included in guidelines as preferred first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring mutations in the MAPK pathway such as ARAF, NRAS, KRAS, MAP2K1/2, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN.org).
|
detail...
|
FLT3 exon14
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Daunorubicin + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin), in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine), is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
FGFR2 rearrange
|
cholangiocarcinoma
|
sensitive
|
Pemigatinib
|
Guideline |
Actionable |
Pemazyre (pemigatinib) is included in guidelines as subsequent-line therapy for patients with cholangiocarcinoma harboring FGFR2 fusions or rearrangements (NCCN.org).
|
detail...
|
CD274 positive
|
triple-receptor negative breast cancer
|
sensitive
|
Paclitaxel + Pembrolizumab
|
Guideline |
Actionable |
Combination of Keytruda (pembrolizumab) and Taxol (paclitaxel) is included in guidelines for patients with recurrent or metastatic CD274 (PD-L1)-positive (CPS >or= 10) triple-receptor negative breast cancer (NCCN.org).
|
detail...
|
MLH1 mutant
|
small intestine adenocarcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing small bowel adenocarcinoma (NCCN.org).
|
detail...
|
MLH1 negative
|
stomach cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line, second-line, or subsequent therapy for patients with microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) stomach cancer that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).
|
detail...
|
MLH1 negative
|
pancreatic adenocarcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with locally advanced, metastatic, or recurrent pancreatic adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) who have not received prior immunotherapy (NCCN.org).
|
detail...
|
IDH2 mutant
|
acute myeloid leukemia
|
sensitive
|
Decitabine + Venetoclax
|
Guideline |
Actionable |
Venclexta (venetoclax) in combination with Dacogen (decitabine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH2 mutation (NCCN.org).
|
detail...
|
FLT3 rearrange
|
myeloid neoplasm
|
sensitive
|
Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a FLT3 rearrangement (NCCN.org).
|
detail...
|
MSH6 negative
|
prostate adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as a second-line therapy for patients with advanced or metastatic prostate adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
FGFR1 rearrange
|
childhood B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
FGFR1 rearrangements are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
FLT3 exon20
|
acute myeloid leukemia
|
sensitive
|
Gilteritinib
|
Guideline |
Actionable |
Xospata (gilteritinib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
PTEN mutant
|
skin melanoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline PTEN mutations or polymorphisms are associated with increased risk of developing single or multiple primary cutaneous melanomas (NCCN.org).
|
detail...
|
MSH2 negative
|
stomach cancer
|
sensitive
|
Capecitabine + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH2 negative
|
Ewing sarcoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic Ewing sarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
CD274 positive
|
lung squamous cell carcinoma
|
sensitive
|
Cemiplimab + Cisplatin + Paclitaxel
|
Guideline |
Actionable |
Combination Platinol (cisplatin), Taxol (paclitaxel), and Libtayo (cemiplimab) is in guidelines as first-line therapy for patients with advanced or metastatic squamous cell lung cancer with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
FLT3 exon 14 ins
|
acute myeloid leukemia
|
predicted - sensitive
|
Cytarabine + Quizartinib
|
Guideline |
Actionable |
Vanflyta (quizartinib) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
BRAF V600E
|
lung non-small cell carcinoma
|
sensitive
|
Dabrafenib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) is in guidelines as a first-line therapy for patients with advanced or metastatic non-small cell lung cancer with BRAF V600E mutations who can not tolerate the combination of Mekinist (trametinib) and Tafinlar (dabrafenib) (NCCN.org).
|
detail...
|
MSH6 negative
|
endometrial carcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as first-line or second-line therapy for patients with high microsatellite instability (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent endometrial carcinoma (NCCN.org).
|
detail...
|
MSH2 negative
|
ovarian germ cell cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as recurrence therapy for patients with malignant ovarian germ cell tumors with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
RET fusion
|
colon cancer
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines for patients with metastatic colon cancer harboring RET fusions (NCCN.org).
|
detail...
|
CD274 positive
|
lung adenocarcinoma
|
sensitive
|
Carboplatin + Durvalumab + Pemetrexed Disodium + Tremelimumab
|
Guideline |
Actionable |
Combination Paraplatin (carboplatin), Alimta (pemetrexed disodium), Imfinzi (durvalumab), and Imjudo (tremelimumab) is in guidelines as first-line therapy for patients with advanced or metastatic lung adenocarcinoma, with CD274 (PD-L1) expression >/=1% - 49% (category 1) or >/= 50% (category 2B), and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Zanubrutinib
|
Guideline |
Actionable |
Brukinsa (zanubrutinib) is included in guidelines as first line therapy and second line therapy and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).
|
detail...
|
MSH2 negative
|
extrahepatic bile duct carcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy (category 2B) for patients with biliary tract cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including extrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
PMS2 negative
|
stomach cancer
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
BRAF V600E
|
skin melanoma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines for cutaneous melanoma patients harboring a BRAF V600 mutation, such as BRAF V600E, as neoadjuvant or adjuvant therapy for stage III disease and as systemic therapy for patients with unresectable or metastatic disease (NCCN.org).
|
detail...
|
PMS2 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Durvalumab + Tremelimumab
|
Guideline |
Actionable |
Imfinzi (durvalumab), in combination with Imjudo (tremelimumab), is included in guidelines as neoadjuvant therapy for patients with gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MLH1 negative
|
stomach cancer
|
sensitive
|
Capecitabine + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Lenalidomide + Rituximab
|
Guideline |
Actionable |
Revlimid (lenalidomide) combined with Rituxan (rituximab) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).
|
detail...
|
MLH1 negative
|
endometrial carcinoma
|
sensitive
|
Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) is included in guidelines as a second-line or subsequent-line therapy for patients with high microsatellite instability (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent endometrial carcinoma (NCCN.org).
|
detail...
|
RET fusion
|
Erdheim-Chester disease
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring RET fusions (NCCN.org).
|
detail...
|
MSH6 negative
|
chordoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic chordoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
IDH1 mutant
|
angioimmunoblastic T-cell lymphoma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
IDH1 mutations aid in the diagnosis of angioimmunoblastic T-cell lymphoma (NCCN.org).
|
detail...
|
BRAF V600E
|
esophagus squamous cell carcinoma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines as second-line or subsequent therapy for patients with locally advanced, recurrent, or metastatic esophageal squamous cell carcinoma harboring BRAF V600E (NCCN.org).
|
detail...
|
MLH1 negative
|
sarcoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy for soft tissue sarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), regardless of sarcoma sub-type (NCCN.org).
|
detail...
|
RET V804M RET E805K
|
thyroid gland medullary carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Compound germline RET V804M and E805K mutations result in multiple endocrine neoplasia, type 2B (MEN 2B), which is associated with high risk of developing thyroid medullary carcinoma (NCCN.org).
|
detail...
|
ROS1 rearrange
|
lung non-small cell carcinoma
|
sensitive
|
Crizotinib
|
Guideline |
Actionable |
Xalkori (crizotinib) is included in guidelines as the preferred first-line therapy for ROS1 rearranged non-small cell lung cancer (NCCN.org).
|
detail...
|
BRAF V600E
|
thyroid gland papillary carcinoma
|
sensitive
|
Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) is included in guidelines for patients with recurrent, advanced, or metastatic thyroid papillary carcinoma harboring BRAF V600E for whom clinical trials are not available or appropriate (NCCN.org).
|
detail...
|
MLH1 negative
|
hepatocellular carcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) hepatocellular carcinoma (NCCN.org).
|
detail...
|
RET fusion
|
thyroid gland medullary carcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines for patients with medullary thyroid carcinoma harboring RET fusions (NCCN.org).
|
detail...
|
MSH6 negative
|
vulva cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as a second-line therapy for patients with MSI high or dMMR (often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) vulva cancer (NCCN.org).
|
detail...
|
MLH1 negative
|
Squamous Cell Carcinoma of Unknown Primary
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with squamous cell carcinoma of unknown primary with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
FLT3 exon 14 ins
|
acute myeloid leukemia
|
sensitive
|
Quizartinib
|
Guideline |
Actionable |
Vanflyta (quizartinib) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
MSH6 negative
|
pancreatic adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line or subsequent therapy for patients with locally advanced, metastatic, or recurrent pancreatic adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
FLT3 exon21
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
MSH6 negative
|
penile cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as subsequent-line systemic therapy for metastatic/recurrent penile cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
PMS2 mutant
|
pancreatic cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline mutations in PMS2 result in Lynch syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org).
|
detail...
|
RET fusion
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines as second-line or subsequent therapy for patients with locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma harboring RET fusions (NCCN.org).
|
detail...
|
BRAF wild-type
|
rectum cancer
|
predicted - sensitive
|
Cetuximab
|
Guideline |
Actionable |
Erbitux (cetuximab), alone and in combination with chemotherapy, is included in guidelines for patients with advanced or metastatic rectal cancer that is BRAF wild-type, KRAS wild-type, and NRAS wild-type (NCCN.org).
|
detail...
|
POLD1 inact mut
|
rectum cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with advanced or metastatic rectal cancer harboring POLD1 inactivating mutations (NCCN.org).
|
detail...
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Idelalisib + Rituximab
|
Guideline |
Actionable |
Zydelig (idelalisib) combined with Rituxan (rituximab) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).
|
detail...
|
RET fusion
|
thyroid gland papillary carcinoma
|
sensitive
|
Pralsetinib
|
Guideline |
Actionable |
Gavreto (pralsetinib) is included in guidelines as systemic therapy for patients with papillary thyroid carcinoma harboring RET fusions (NCCN.org).
|
detail...
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Alemtuzumab + Rituximab
|
Guideline |
Actionable |
Campath (alemtuzumab) combined with Rituxan (rituximab) is indicated in guidelines as therapy for patients with relapsed or refractory chronic lymphocytic leukemia/small lymphocytic lymphoma with a TP53 mutation who received prior treatment with a BTK inhibitor or Venclexta (venetoclax)-based therapy (NCCN.org).
|
detail...
|
CD274 positive
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Fluorouracil + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab) in combination with first-line chemotherapy including Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as preferred first-line therapy for patients with locally advanced, recurrent, or metastatic ERBB2 (HER2) overexpression negative gastroesophageal junction adenocarcinoma expressing PD-L1 (CD274) with CPS >/= 5 (category 1) or with CPS < 5 (category 2B) (NCCN.org).
|
detail...
|
MSH6 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Fluorouracil + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
BRAF V600X
|
skin melanoma
|
sensitive
|
Atezolizumab + Cobimetinib + Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) plus Cotellic (cobimetinib) in combination with an immune checkpoint inhibitor, such as Tecentriq (atezolizumab), is included in guidelines as second-line or subsequent therapy (category 2A) for patients with metastatic or unresectable cutaneous melanoma harboring a BRAF V600 mutation (NCCN.org).
|
detail...
|
POLE inact mut
|
rectum cancer
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) in combination with Yervoy (ipilimumab) is included in guidelines as systemic therapy for patients with advanced or metastatic rectal cancer harboring POLE inactivating mutations (NCCN.org).
|
detail...
|
JAK2 rearrange
|
childhood B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
JAK2 rearrangements are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
CD274 positive
|
esophagus squamous cell carcinoma
|
sensitive
|
Capecitabine + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) in combination with first-line chemotherapy including Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as preferred first-line therapy for patients with locally advanced, recurrent, or metastatic esophageal squamous cell carcinoma expressing PD-L1 (CD274) with CPS >/= 10 (category 1) and for patients with CPS <10 (category 2B) (NCCN.org).
|
detail...
|
FLT3 exon20
|
acute myeloid leukemia
|
sensitive
|
Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
MLH1 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Capecitabine + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH6 negative
|
esophagus adenocarcinoma
|
sensitive
|
Capecitabine + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
BRAF V600E
|
pilocytic astrocytoma
|
sensitive
|
Selumetinib
|
Guideline |
Actionable |
Koselugo (selumetinib) is included in guidelines for patients with recurrent or progressive pilocytic astrocytoma harboring BRAF V600E (NCCN.org).
|
detail...
|
BRAF V600E
|
skin melanoma
|
sensitive
|
Atezolizumab + Cobimetinib + Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) plus Cotellic (cobimetinib) in combination with an immune checkpoint inhibitor, such as Tecentriq (atezolizumab), is included in guidelines as second-line or subsequent therapy (category 2A) for patients with metastatic or unresectable cutaneous melanoma harboring a BRAF V600 mutation, such as BRAF V600E (NCCN.org).
|
detail...
|
BRAF V600K
|
skin melanoma
|
sensitive
|
Binimetinib + Encorafenib
|
Guideline |
Actionable |
Braftovi (encorafenib) in combination with Mektovi (binimetinib) is included in guidelines as first-line and second-line therapy for patients with metastatic or unresectable cutaneous melanoma harboring BRAF V600E or V600K mutations (PMID: 30959471; NCCN.org).
|
30959471
detail...
|
CD274 positive
|
gastric adenocarcinoma
|
sensitive
|
Fluorouracil + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) in combination with a fluoropyrimidine (Adrucil (fluorouracil) or Xeloda (capecitabine)) and platinum-containing chemotherapy (Eloxatin (oxaliplatin) or Platinol (cisplatin)) is included in guidelines as a preferred first-line therapy for patients with locally advanced, unresectable, or metastatic gastric adenocarcinoma expressing CD274 (PD-L1, CPS>/=10; category 1) or CD274 (PD-L1, CPS>/=1 and <10; category 2B) and without ERBB2 (HER2) overexpression (NCCN.org).
|
detail...
|
STK11 mutant
|
stomach cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline mutations in STK11 result in Peutz Jeghers syndrome, which is associated with increased risk of developing gastric cancer (NCCN.org).
|
detail...
|
FLT3 exon 14 ins
|
acute myeloid leukemia
|
sensitive
|
Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).
|
detail...
|
ABL1 rearrange
|
myeloid neoplasm
|
sensitive
|
Dasatinib
|
Guideline |
Actionable |
Sprycel (dasatinib) is included in guidelines as a preferred regimen for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a ABL1 rearrangement (NCCN.org).
|
detail...
|
PMS2 negative
|
endometrial carcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as first-line or second-line therapy for patients with high microsatellite instability (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent endometrial carcinoma (NCCN.org).
|
detail...
|
BRAF V600E
|
esophagus adenocarcinoma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines as second-line or subsequent therapy for patients with locally advanced, recurrent, or metastatic esophageal adenocarcinoma harboring BRAF V600E (NCCN.org).
|
detail...
|
BRAF V600X
|
skin melanoma
|
sensitive
|
Binimetinib + Encorafenib
|
Guideline |
Actionable |
Mektovi (binimetinib) and Braftovi (encorafenib) combination therapy is included in guidelines as a second-line or subsequent therapy for patients with metastatic or unresectable cutaneous melanoma harboring a BRAF V600 activating mutation (NCCN.org).
|
detail...
|
TP53 mutant
|
B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
TP53 mutations are associated with poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
MSH6 negative
|
Squamous Cell Carcinoma of Unknown Primary
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with squamous cell carcinoma of unknown primary with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
FLT3 rearrange
|
myeloid neoplasm
|
sensitive
|
Gilteritinib
|
Guideline |
Actionable |
Xospata (gilteritinib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a FLT3 rearrangement (NCCN.org).
|
detail...
|
IDH2 mutant
|
malignant astrocytoma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
IDH2 mutations aid in the diagnosis of grade II and grade III astrocytomas (NCCN.org).
|
detail...
|
MSH6 negative
|
intrahepatic cholangiocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as primary therapy and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including intrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
IDH2 mutant
|
angioimmunoblastic T-cell lymphoma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
IDH2 mutations aid in the diagnosis of angioimmunoblastic T-cell lymphoma (NCCN.org).
|
detail...
|
MSH2 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Capecitabine + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
CD274 positive
|
lung squamous cell carcinoma
|
sensitive
|
Carboplatin + Paclitaxel + Pembrolizumab
|
Guideline |
Actionable |
Combination Paraplatin (carboplatin), Taxol (paclitaxel), and Keytruda (pembrolizumab) is in guidelines as preffered first-line therapy for patients with advanced or metastatic lung squamous cell carcinoma with CD274 (PD-L1) expression of greater than or equal to 1% and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
TP53 loss
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Idelalisib + Rituximab
|
Guideline |
Actionable |
Zydelig (idelalisib) combined with Rituxan (rituximab) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).
|
detail...
|
NRAS exon4
|
rectum cancer
|
resistant
|
Panitumumab
|
Guideline |
Actionable |
Vectibix (panitumumab) is not indicated for use in rectum cancer patients with NRAS exon 4 mutations (NCCN.org).
|
detail...
|
NRAS exon2
|
rectum cancer
|
resistant
|
Cetuximab
|
Guideline |
Actionable |
Erbitux (cetuximab) is not indicated for use in rectum cancer patients with NRAS exon 2 mutations (NCCN.org).
|
detail...
|
IDH1 mutant
|
cholangiocarcinoma
|
sensitive
|
Ivosidenib
|
Guideline |
Actionable |
Tibsovo (ivosidenib) is included in guidelines as subsequent therapy (category 1) for cholangiocarcinoma patients harboring IDH1 mutations (NCCN.org).
|
detail...
|
MSH6 negative
|
rectum cancer
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) in combination with Yervoy (ipilimumab) is included in guidelines as a primary therapy for advanced or metastatic rectum cancer patients with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
ABL1 rearrange
|
B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
ABL1 rearrangements are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
CD274 positive
|
lung adenocarcinoma
|
sensitive
|
Carboplatin + Cemiplimab + Paclitaxel
|
Guideline |
Actionable |
Combination Paraplatin (carboplatin), Taxol (paclitaxel), and Libtayo (cemiplimab) is in guidelines as first-line therapy for patients with advanced or metastatic lung adenocarcinoma with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
PMS2 negative
|
prostate adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as a second-line therapy for patients with advanced or metastatic prostate adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
sensitive
|
Acalabrutinib
|
Guideline |
Actionable |
Calquence (acalabrutinib) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).
|
detail...
|
APC mutant
|
medulloblastoma
|
not applicable
|
N/A
|
Guideline |
Prognostic |
WNT-driven medulloblastomas, characterized by CTNNB1 or APC mutations, are associated with favorable prognosis (NCCN.org).
|
detail...
|
RET V804M RET S904C
|
thyroid gland medullary carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Compound germline RET V804M and S904C mutations result in multiple endocrine neoplasia, type 2B (MEN 2B), which is associated with high risk of developing thyroid medullary carcinoma (NCCN.org).
|
detail...
|
MSH6 negative
|
colon cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH2 negative
|
pancreatic adenocarcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with locally advanced, metastatic, or recurrent pancreatic adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) who have not received prior immunotherapy (NCCN.org).
|
detail...
|
BRAF V600E
|
low grade glioma
|
sensitive
|
Cobimetinib + Vemurafenib
|
Guideline |
Actionable |
Combination of Zelboraf (vemurafenib) and Cotellic (cobimetinib) is included in guidelines for patients with recurrent or progressive low grade glioma harboring BRAF V600E (NCCN.org).
|
detail...
|
MLH1 negative
|
extrahepatic bile duct carcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy (category 2B) for patients with biliary tract cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including extrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
POLE inact mut
|
rectum cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy for patients with advanced or metastatic rectal cancer harboring POLE inactivating mutations (NCCN.org).
|
detail...
|
BRAF fusion
|
pilocytic astrocytoma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
BRAF fusions aid in the diagnosis of pilocytic astrocytoma (NCCN.org).
|
detail...
|
MSH2 negative
|
chondrosarcoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic chondrosarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
RET fusion
|
thyroid gland anaplastic carcinoma
|
sensitive
|
Pralsetinib
|
Guideline |
Actionable |
Gavreto (pralsetinib) is included in guidelines as systemic therapy for patients with anaplastic thyroid carcinoma harboring RET fusions (NCCN.org).
|
detail...
|
BRAF mutant
|
splenic marginal zone lymphoma
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
BRAF mutations aid in the diagnosis of splenic marginal zone lymphoma (NCCN.org).
|
detail...
|
BRAF V600E
|
thyroid gland anaplastic carcinoma
|
sensitive
|
Dabrafenib + Trametinib
|
Guideline |
Actionable |
Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines for metastatic thyroid gland anaplastic carcinoma patients harboring BRAF V600E (NCCN.org).
|
detail...
|
PMS2 negative
|
gallbladder cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy (category 2B) for patients with biliary tract cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including gallbladder cancer (NCCN.org).
|
detail...
|
MSH6 negative
|
ampulla of Vater adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line or subsequent therapy for metastatic ampullary adenocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH6 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as second-line or subsequent therapy for patients with microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) esophageal squamous cell carcinoma that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).
|
detail...
|
MSH2 negative
|
colon cancer
|
sensitive
|
Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) is included in guidelines as primary or subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
RET fusion
|
sarcoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines as first-line therapy for patients with advanced or metastatic soft tissue sarcoma harboring RET fusions (NCCN.org).
|
detail...
|
MSH2 negative
|
intrahepatic cholangiocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as primary therapy and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including intrahepatic cholangiocarcinoma (NCCN.org).
|
detail...
|
RET fusion
|
Adenocarcinoma of Unknown Primary
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines for patients with adenocarcinoma of unknown primary harboring RET fusions (NCCN.org).
|
detail...
|
JAK2 exon12
|
polycythemia vera
|
not applicable
|
N/A
|
Guideline |
Diagnostic |
JAK2 exon 12 mutations aid in the diagnosis of polycythemia vera (NCCN.org).
|
detail...
|
MSH6 negative
|
bone cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as a systemic therapy for patients with unresectable or metastatic bone cancer with high microsatellite instability (MSI-H) or mismatch repair deficiency (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH2 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Capecitabine + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH6 negative
|
esophagus adenocarcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH2 negative
|
rectum cancer
|
sensitive
|
Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) is included in guidelines as a primary therapy for advanced or metastatic rectum cancer patients with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MLH1 negative
|
Adenocarcinoma of Unknown Primary
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with adenocarcinoma of unknown primary with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH6 negative
|
cervical cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as preferred second-line or subsequent therapy for patients with cervical cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
RET C634X
|
thyroid gland medullary carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline RET C634X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with high risk of developing thyroid medullary carcinoma (NCCN.org).
|
detail...
|
JAK2 mutant
|
childhood B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
JAK2 mutations are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
ALK rearrange
|
lung non-small cell carcinoma
|
sensitive
|
Brigatinib
|
Guideline |
Actionable |
Alunbrig (brigatinib) is included in guidelines as preferred first-line and as subsequent therapy for patients with advanced or metastatic ALK-rearranged non-small cell lung cancer (NCCN.org).
|
detail...
|
FLT3 exon15
|
acute myeloid leukemia
|
sensitive
|
Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
PMS2 negative
|
bone cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as a systemic therapy for patients with unresectable or metastatic bone cancer with high microsatellite instability (MSI-H) or mismatch repair deficiency (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
RET rearrange
|
lung non-small cell carcinoma
|
sensitive
|
Pralsetinib
|
Guideline |
Actionable |
Gavreto (pralsetinib) is included in guidelines as a first-line and subsequent therapy for patients with advanced or metastatic non-small cell lung cancer harboring RET rearrangements (NCCN.org).
|
detail...
|
IDH2 mutant
|
high grade glioma
|
not applicable
|
N/A
|
Guideline |
Prognostic |
IDH2 mutations are associated with a favorable prognosis in patients with glioma, and are associated with a survival benefit for patients treated with radiation or alkylator therapy (NCCN.org).
|
detail...
|
RET V804X
|
thyroid gland medullary carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline RET V804X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with increased risk of developing thyroid medullary carcinoma (NCCN.org).
|
detail...
|
MSH6 mutant
|
pancreatic cancer
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline mutations in MSH6 result in Lynch syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org).
|
detail...
|
BRAF V600E
|
colon cancer
|
resistant
|
Panitumumab
|
Guideline |
Actionable |
Vectibix (panitumumab), as a monotherapy, is not indicated for use in colon cancer patients with BRAF V600E (NCCN.org).
|
detail...
|
MLH1 negative
|
stomach cancer
|
sensitive
|
Fluorouracil + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
BRAF V600E
|
pilocytic astrocytoma
|
sensitive
|
Cobimetinib + Vemurafenib
|
Guideline |
Actionable |
Zelboraf (vemurafenib) and Cotellic (cobimetinib) combination therapy is included in guidelines as an adjuvant treatment for patients with pilocytic astrocytoma harboring BRAF V600E (NCCN.org).
|
detail...
|
PMS2 mutant
|
small intestine adenocarcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing small bowel adenocarcinoma (NCCN.org).
|
detail...
|
MSH6 negative
|
gallbladder cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as primary therapy and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including gallbladder cancer (NCCN.org).
|
detail...
|
RET A883X
|
thyroid gland medullary carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline RET A883X mutations result in multiple endocrine neoplasia, type 2B (MEN 2B), which is associated with high risk of developing thyroid medullary carcinoma (NCCN.org).
|
detail...
|
FLT3 exon 15 ins
|
acute myeloid leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
FLT3 internal tandem duplication (FLT3-ITD) mutations are associated with inferior prognosis in acute myeloid leukemia patients with normal karyotype (NCCN.org).
|
detail...
|
CD274 over exp
|
lung non-small cell carcinoma
|
sensitive
|
Atezolizumab
|
Guideline |
Actionable |
Tecentriq (atezolizumab) is included in guidelines as preferred first-line therapy for patients with advanced or metastatic non-small cell lung cancer, not otherwise specified, with CD274 (PD-L1) expression of at least 50% and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
PMS2 negative
|
hepatocellular carcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) hepatocellular carcinoma (NCCN.org).
|
detail...
|
MSH2 negative
|
esophagus adenocarcinoma
|
sensitive
|
Fluorouracil + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH6 negative
|
esophagus squamous cell carcinoma
|
sensitive
|
Fluorouracil + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
RET fusion
|
thyroid gland Hurthle cell carcinoma
|
sensitive
|
Pralsetinib
|
Guideline |
Actionable |
Gavreto (pralsetinib) is included in guidelines for patients with thyroid Hurthle cell carcinoma harboring RET fusions (NCCN.org).
|
detail...
|
FLT3 exon 14 ins
|
myelodysplastic syndrome
|
not applicable
|
N/A
|
Guideline |
Prognostic |
FLT3 internal tandem duplication (FLT3-ITD) mutations are associated with poor prognosis in patients with myelodysplastic syndrome (NCCN.org).
|
detail...
|
ATM inact mut
|
prostate cancer
|
sensitive
|
Olaparib
|
Guideline |
Actionable |
Lynparza (olaparib) is included in guidelines as second-line therapy post androgen receptor-directed therapy for patients with metastatic castration-resistant prostate cancer harboring pathogenic mutations in ATM (NCCN.org).
|
detail...
|
ALK rearrange ALK L1196M
|
lung non-small cell carcinoma
|
sensitive
|
Lorlatinib
|
Guideline |
Actionable |
Lorbrena (lorlatinib) is included in guidelines as subsequent therapy for patients with advanced or metastatic ALK-rearranged non-small cell lung cancer harboring ALK L1196M (NCCN.org).
|
detail...
|
MLH1 negative
|
ampulla of Vater adenocarcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for metastatic ampullary adenocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
IDH1 mutant
|
acute myeloid leukemia
|
sensitive
|
Azacitidine + Ivosidenib
|
Guideline |
Actionable |
Tibsovo (ivosidenib) in combination with Vidaza (azacitidine) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring an IDH1 mutation (NCCN.org).
|
detail...
|
BRAF V600E
|
rectum cancer
|
resistant
|
Panitumumab
|
Guideline |
Actionable |
Vectibix (panitumumab), as a monotherapy, is not indicated for use in rectum cancer patients with BRAF V600E (NCCN.org).
|
detail...
|
MSH2 negative
|
esophagus adenocarcinoma
|
sensitive
|
Fluorouracil + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
PMS2 negative
|
thyroid gland follicular carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with follicular thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).
|
detail...
|
BRAF wild-type
|
colon cancer
|
predicted - sensitive
|
Panitumumab
|
Guideline |
Actionable |
Vectibix (panitumumab), alone and in combination with chemotherapy, is included in guidelines for patients with advanced or metastatic colon cancer that is BRAF wild-type, KRAS wild-type, and NRAS wild-type (NCCN.org).
|
detail...
|
PMS2 negative
|
ovarian germ cell cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as recurrence therapy for patients with malignant ovarian germ cell tumors with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH6 negative
|
stomach cancer
|
sensitive
|
Fluorouracil + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH2 negative
|
esophagus adenocarcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as first-line, second-line, or subsequent therapy for patients with microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) esophageal adenocarcinoma that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).
|
detail...
|
MSH2 negative
|
gallbladder cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy (category 2B) for patients with biliary tract cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including gallbladder cancer (NCCN.org).
|
detail...
|
MLH1 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Fluorouracil + Oxaliplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
PMS2 negative
|
thyroid gland medullary carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with medullary thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).
|
detail...
|
MSH6 negative
|
small intestine adenocarcinoma
|
sensitive
|
Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH6 negative
|
gastroesophageal junction adenocarcinoma
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
CD274 positive
|
lung squamous cell carcinoma
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Combination Opdivo (nivolumab) plus Yervoy (ipilimumab) is in guidelines as first-line or continuation maintenance therapy for advanced or metastatic lung squamous cell carcinoma patients with CD274 (PD-L1) expression >1% and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
PIK3CA mutant
|
Erdheim-Chester disease
|
sensitive
|
Cobimetinib
|
Guideline |
Actionable |
Cotellic (cobimetinib) is included in guidelines as preferred first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring mutations in the MAPK pathway such as ARAF, NRAS, KRAS, MAP2K1/2, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN.org).
|
detail...
|
PMS2 negative
|
ampulla of Vater adenocarcinoma
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) and Yervoy (ipilimumab) combination therapy is included in guidelines as first-line or subsequent therapy for metastatic ampullary adenocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH2 negative
|
colon cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MLH1 negative
|
Adenocarcinoma of Unknown Primary
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines for patients with adenocarcinoma of unknown primary with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
PMS2 negative
|
colon cancer
|
sensitive
|
Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) is included in guidelines as primary or subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH2 negative
|
osteosarcoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic osteosarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH2 negative
|
esophagus adenocarcinoma
|
sensitive
|
Ipilimumab + Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH2 negative
|
chordoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic chordoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MLH1 negative
|
esophagus adenocarcinoma
|
sensitive
|
Capecitabine + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
ALK rearrange
|
lung non-small cell carcinoma
|
no benefit
|
Nivolumab
|
Guideline |
Actionable |
Immune checkpoint inhibitors including Opdivo (nivolumab), Keytruda (pembrolizumab), Tecentriq (atezolizumab), and Imfinzi (durvalumab) are not indicated for use as subsequent therapy in non-small cell lung cancer patients with ALK rearrangement (NCCN.org).
|
detail...
|
RET fusion
|
hepatocellular carcinoma
|
sensitive
|
Selpercatinib
|
Guideline |
Actionable |
Retevmo (selpercatinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with hepatocellular carcinoma harboring RET fusions (NCCN.org).
|
detail...
|
PMS2 negative
|
Adenocarcinoma of Unknown Primary
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines for patients with adenocarcinoma of unknown primary with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
KIT act mut
|
skin melanoma
|
sensitive
|
Nilotinib
|
Guideline |
Actionable |
Tasigna (nilotinib) is included in guidelines as second-line therapy for metastatic or unresectable cutaneous melanoma patients with KIT activating mutations (NCCN.org).
|
detail...
|
CD274 positive
|
cervical cancer
|
sensitive
|
Bevacizumab + Carboplatin + Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) combined with Paraplatin (carboplatin) and Avastin (bevacizumab) is included in guidelines as first-line therapy for patients with CD274 (PD-L1)-positive cervical cancer (NCCN.org).
|
detail...
|
MLH1 negative
|
thyroid gland papillary carcinoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with papillary thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).
|
detail...
|
MLH1 negative
|
chordoma
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic chordoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH2 negative
|
endometrial carcinoma
|
sensitive
|
Avelumab
|
Guideline |
Actionable |
Bavencio (avelumab) is included in guidelines as a second-line or subsequent-line therapy for patients with high microsatellite instability (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent endometrial carcinoma (NCCN.org).
|
detail...
|
MLH1 negative
|
gallbladder cancer
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy (category 2B) for patients with biliary tract cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including gallbladder cancer (NCCN.org).
|
detail...
|
CD274 positive
|
esophagus adenocarcinoma
|
sensitive
|
Fluorouracil + Nivolumab + Oxaliplatin
|
Guideline |
Actionable |
Opdivo (nivolumab) in combination with first-line chemotherapy including Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as preferred first-line therapy for patients with locally advanced, recurrent, or metastatic ERBB2 (HER2) overexpression negative esophageal adenocarcinoma expressing PD-L1 (CD274) with CPS >/= 5 (category 1) or with CPS < 5 (category 2B) (NCCN.org).
|
detail...
|
ATR inact mut
|
prostate cancer
|
sensitive
|
Enzalutamide + Talazoparib
|
Guideline |
Actionable |
Talzenna (talazoparib) plus Xtandi (enzalutamide) is included in guidelines as systemic therapy for patients with metastatic castration-resistant prostate cancer harboring a pathogenic germline or somatic ATR mutation who have not been treated in the setting of castration-resistant prostate cancer (NCCN.org).
|
detail...
|
FLT3 exon22
|
acute myeloid leukemia
|
sensitive
|
Cytarabine + Midostaurin
|
Guideline |
Actionable |
Rydapt (midostaurin) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).
|
detail...
|
MLH1 negative
|
ovarian germ cell cancer
|
sensitive
|
Pembrolizumab
|
Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines as recurrence therapy for patients with malignant ovarian germ cell tumors with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH2 negative
|
ampulla of Vater adenocarcinoma
|
sensitive
|
Dostarlimab-gxly
|
Guideline |
Actionable |
Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for metastatic ampullary adenocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
|
detail...
|
MSH2 mutant
|
endometrial carcinoma
|
not applicable
|
N/A
|
Guideline |
Risk Factor |
Germline mutations in MSH2 result in Lynch syndrome, which is associated with increased risk of developing endometrial carcinoma (NCCN.org).
|
detail...
|
TP53 mutant
|
chronic lymphocytic leukemia/small lymphocytic lymphoma
|
not applicable
|
N/A
|
Guideline |
Prognostic |
TP53 mutations are associated with a poor prognosis in patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (NCCN.org).
|
detail...
|
JAK1 rearrange
|
childhood B-cell acute lymphoblastic leukemia
|
not applicable
|
N/A
|
Guideline |
Prognostic |
JAK1 rearrangements are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org).
|
detail...
|
CD274 positive
|
lung non-small cell carcinoma
|
sensitive
|
Cisplatin + Pembrolizumab + Pemetrexed Disodium
|
Guideline |
Actionable |
Combination Platinol (cisplatin), Alimta (pemetrexed disodium), and Keytruda (pembrolizumab) is in guidelines as preferred first-line therapy for patients with advanced or metastatic non-small cell lung cancer, not otherwise specified, with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).
|
detail...
|
MLH1 negative
|
colon cancer
|
sensitive
|
Nivolumab
|
Guideline |
Actionable |
Opdivo (nivolumab) is included in guidelines as primary or subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
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detail...
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IDH2 mutant
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glioblastoma
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not applicable
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N/A
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Guideline |
Diagnostic |
IDH2 mutations aid in the diagnosis of secondary grade IV glioblastomas (NCCN.org).
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detail...
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KMT2A rearrange
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childhood B-cell acute lymphoblastic leukemia
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not applicable
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N/A
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Guideline |
Prognostic |
KMT2A rearrangements are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org).
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detail...
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PMS2 negative
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Adenocarcinoma of Unknown Primary
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sensitive
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Pembrolizumab
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Guideline |
Actionable |
Keytruda (pembrolizumab) is included in guidelines for patients with adenocarcinoma of unknown primary with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).
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detail...
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CD274 positive
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cervical cancer
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sensitive
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Bevacizumab + Cisplatin + Pembrolizumab
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Guideline |
Actionable |
Keytruda (pembrolizumab) combined with Platinol (cisplatin) and Avastin (bevacizumab) is included in guidelines as first-line therapy for patients with CD274 (PD-L1)-positive cervical cancer (NCCN.org).
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detail...
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CD274 positive
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lung non-small cell carcinoma
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sensitive
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Carboplatin + Cemiplimab + Pemetrexed Disodium
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Guideline |
Actionable |
Combination Paraplatin (carboplatin), Alimta (pemetrexed disodium), and Libtayo (cemiplimab) is in guidelines as first-line therapy for patients with advanced or metastatic non-small cell lung cancer, not otherwise specified, with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).
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detail...
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PIK3CA mutant
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Erdheim-Chester disease
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sensitive
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Everolimus
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Guideline |
Actionable |
Afinitor (everolimus) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring PIK3CA mutations (NCCN.org).
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detail...
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IDH2 mutant
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acute myeloid leukemia
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sensitive
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Azacitidine + Venetoclax
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Guideline |
Actionable |
Venclexta (venetoclax) in combination with Vidaza (azacitidine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH2 mutation (NCCN.org).
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detail...
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