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Title NCCN.org
URL https://www.nccn.org/professionals/physician_gls/default.aspx
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Molecular Profile Treatment Approach
ABL1 rearrange ABL Inhibitor (pan)
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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...
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...
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 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...
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 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 >/=1 and <10 (category 2B) (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...
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 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...
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...
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...
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...
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...
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...
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...
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...
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...
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 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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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 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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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 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 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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
POLE inact mut 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 harboring POLE inactivating mutations (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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
KMT2A rearrange childhood B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic KMT2A rearrangements are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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 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...
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...
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 esophagus 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 with locally advanced, recurrent, or metastatic ERBB2 (HER2) overexpression-negative esophageal adenocarcinoma expressing PD-L1 (CD274) with CPS >/= 10 (category 1) or with CPS >/= 1 and <10 (category 2B) (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...
IDH2 mutant glioblastoma not applicable N/A Guideline Diagnostic IDH2 mutations aid in the diagnosis of secondary grade IV glioblastomas (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...
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...
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...
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...
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...
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...
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...
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...
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...
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 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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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 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...
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...
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...
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...
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 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...
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...
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...
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...
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...
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...
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...
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...
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 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...
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 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 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...
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...
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...
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...
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...
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...
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...
JAK2 mutant essential thrombocythemia not applicable N/A Guideline Diagnostic JAK2 mutations aid in the diagnosis of essential thrombocythemia (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...
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...
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...
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...
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 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...
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...
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...
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...
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...
POLE inact mut 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 harboring POLE inactivating mutations (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 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...
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...
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...
IDH2 mutant anaplastic astrocytoma not applicable N/A Guideline Diagnostic IDH2 mutations aid in the diagnosis of grade III astrocytomas (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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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 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...
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...
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...
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...
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...
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...
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 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...
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...
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...
IDH1 mutant anaplastic astrocytoma not applicable N/A Guideline Diagnostic IDH1 mutations aid in the diagnosis of grade III astrocytomas (NCCN.org). detail...
IDH2 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 IDH2 mutation (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...
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...
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...
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...
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...
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...
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...
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 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...
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 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...
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...
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...
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...
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...
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...
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...
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 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...
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...
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...
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...
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...
TP53 mutant mantle cell lymphoma not applicable N/A Guideline Prognostic TP53 mutations are associated with poor prognosis in patients with mantle cell lymphoma who are treated with conventional therapy, including transplant (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
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...
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...
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...
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...
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...
POLD1 inact mut 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 harboring POLD1 inactivating mutations (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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
IDH1 mutant glioblastoma not applicable N/A Guideline Diagnostic IDH1 mutations aid in the diagnosis of secondary grade IV glioblastomas (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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
BRAF fusion pilocytic astrocytoma not applicable N/A Guideline Diagnostic BRAF fusions aid in the diagnosis of pilocytic astrocytoma (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 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...
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...
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...
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...
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...
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 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...
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...
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...
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...
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 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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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 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...
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...
POLD1 inact mut 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 harboring POLD1 inactivating mutations (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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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 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 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...
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...
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...
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...
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...
POLD1 inact mut 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 harboring POLD1 inactivating mutations (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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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 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...
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...
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...
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...
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...
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...
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...
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...
POLE inact mut 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 harboring POLE inactivating mutations (NCCN.org). detail...
IDH1 mutant oligodendroglioma not applicable N/A Guideline Diagnostic IDH1 mutations aid in the diagnosis of oligodendrogliomas (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...
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...
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...
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...
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 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...
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...
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...
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...
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...
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...
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...
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 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...
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...
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...
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...
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...
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...
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...
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...
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 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 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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
JAK2 V617F polycythemia vera not applicable N/A Guideline Diagnostic JAK2 V617F aids in the diagnosis of polycythemia vera (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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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 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...
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...
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...
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...
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...
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 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...
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...
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...
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 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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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). 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...
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 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...
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...
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...
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...
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 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...
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...
POLE inact mut 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 harboring POLE inactivating mutations (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...
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...
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...
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...
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...
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 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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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 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...
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 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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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 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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
POLD1 inact mut 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 harboring POLD1 inactivating mutations (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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
JAK2 exon12 polycythemia vera not applicable N/A Guideline Diagnostic JAK2 exon 12 mutations aid in the diagnosis of polycythemia vera (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...
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...
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...
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...
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 >/=1 and <10 (category 2B) (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...
PMS2 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...
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 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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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 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...
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...
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...
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...
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...
CD274 positive cervical cancer sensitive Bevacizumab + Cisplatin + Pembrolizumab 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). 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...
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...
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...
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...
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...
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 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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
IDH2 mutant oligodendroglioma not applicable N/A Guideline Diagnostic IDH2 mutations aid in the diagnosis of oligodendrogliomas (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...
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...
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...
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...
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...
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...
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...
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...
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 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...
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...
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...
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...
KIT D816V systemic mastocytosis not applicable N/A Guideline Diagnostic KIT D816V aids in the diagnosis of systemic mastocytosis (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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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 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 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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
CD274 positive esophagus 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 esophageal adenocarcinoma expressing PD-L1 (CD274) with CPS >/= 10 (category 1) or with CPS >/= 1 and <10 (category 2B) (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...
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...
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...
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...
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 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...
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...
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...
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...
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...
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...
CTNNB1 mutant desmoid tumor not applicable N/A Guideline Diagnostic CTNNB1 mutations aid the diagnosis of desmoid tumor (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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
PIK3CA mutant Erdheim-Chester disease sensitive Everolimus 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). 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...
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...
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...
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...
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...
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...
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 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...
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...
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...
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 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...
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...
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...
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...
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...
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...
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 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...
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...
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...
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
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...
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...
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...
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...
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...
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...
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...
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 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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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 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...
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...
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...
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...
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...
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...
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 >/=1 and <10 (category 2B) (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...
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...
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...
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...
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...
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...
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...
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...
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 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...
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...
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...
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...
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...
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...
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...
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 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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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 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...
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 esophagus 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 esophageal adenocarcinoma expressing PD-L1 (CD274) with CPS >/= 10 (category 1) or with CPS >/= 1 and <10 (category 2B) (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...
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...
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...
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...
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...
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 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...
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...
CD274 positive esophagus 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 esophageal adenocarcinoma expressing PD-L1 (CD274) with CPS >/= 10 (category 1) or with CPS >/= 1 and <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...
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...
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 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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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 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...
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...
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 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...
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...
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...
CD274 positive lung non-small 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 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 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...
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...
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 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...
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...
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...
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...
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...
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...
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...
JAK2 mutant myelofibrosis not applicable N/A Guideline Diagnostic JAK2 mutations aid in the diagnosis of primary myelofibrosis (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...
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...
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...
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...
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 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...
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...
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...
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...
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...
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 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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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 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...
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...
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...
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...
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 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...
KMT2A rearrange B-cell acute lymphoblastic leukemia not applicable N/A Guideline Diagnostic KMT2A rearrangements (t(v;11q23.3)) aid in the diagnosis of B-cell acute lymphoblastic leukemia (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...
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 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...
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 l