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Molecular Profile Treatment Approach
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
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, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN Guidelines). 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...
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...
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...
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...
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 activating mutation, such as BRAF V600K, as adjuvant therapy for stage III disease and as systemic therapy for patients with unresectable or metastatic disease (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...
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...
TP53 mutant CLL/SLL 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...
TP53 loss CLL/SLL 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...
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...
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 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...
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...
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...
BRAF V600X skin melanoma sensitive Dabrafenib + Pembrolizumab + Trametinib Guideline Actionable Keytruda (pembrolizumab), Mekinist (trametinib), and Tafinlar (dabrafenib) combination therapy is included in guidelines as a preferred first-line therapy for patients with metastatic or unresectable cutaneous melanoma harboring a BRAF V600 activating mutation (NCCN.org). detail...
FGFR1 rearrange myeloid and lymphoid neoplasms associated with FGFR1 abnormalities sensitive Pemigatinib Guideline Actionable Pemazyre (pemigatinib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring an FGFR1 rearrangement (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...
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...
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...
ALK rearrange inflammatory myofibroblastic tumor sensitive Brigatinib Guideline Actionable Alunbrig (brigatinib) is included in guidelines for inflammatory myofibroblastic tumor patients with ALK translocations (NCCN.org). detail...
ROS1 rearrange lung non-small cell carcinoma no benefit Osimertinib Guideline Actionable EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) are not indicated for use as subsequent therapy in ROS1 rearranged non-small cell lung cancer patients who relapsed on Alecensa (alectinib), Xalkori (crizotinib), or Zykadia (ceritinib) (NCCN.org). detail...
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...
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...
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...
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...
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...
IDH2 mutant anaplastic astrocytoma not applicable N/A Guideline Diagnostic IDH2 mutations aid in the diagnosis of grade III astrocytomas (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...
KIT D816V systemic mastocytosis not applicable N/A Guideline Diagnostic KIT D816V aids in the diagnosis of systemic mastocytosis (NCCN.org). detail...
RET V804M RET S904C thyroid gland medullary carcinoma not applicable N/A Guideline Risk Factor Compound germline RET V840M 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...
ALK rearrange inflammatory myofibroblastic tumor sensitive Crizotinib Guideline Actionable Xalkori (crizotinib) is included in guidelines for inflammatory myofibroblastic tumor patients with ALK translocations (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...
TP53 loss CLL/SLL 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...
IDH2 mutant acute myeloid leukemia sensitive Azacitidine Guideline Actionable Vidaza (azacitidine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH2 mutation (NCCN.org). detail...
MLH1 negative endometrial carcinoma sensitive Dostarlimab-gxly Guideline Actionable Jemperli (dostarlimab-gxly) is included in guidelines as a 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, metastatic, or high-risk endometrial carcinoma (NCCN.org). detail...
ALK rearrange lung non-small cell carcinoma sensitive Brigatinib Guideline Actionable Alunbrig (brigatinib) is included in guidelines as first-line and subsequent therapy for patients with advanced or metastatic ALK-rearranged non-small cell lung cancer (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...
IDH1 mutant oligodendroglioma not applicable N/A Guideline Diagnostic IDH1 mutations aid in the diagnosis of oligodendrogliomas (NCCN.org). detail...
TP53 mutant CLL/SLL 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...
TP53 mutant CLL/SLL sensitive Alemtuzumab + Rituximab Guideline Actionable Campath (alemtuzumab) 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...
MSH6 negative stomach cancer 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) stomach cancer that are unresectable, locally advanced, recurrent, or metastatic (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 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...
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...
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...
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...
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...
MSH6 negative ovarian cancer sensitive Dostarlimab-gxly Guideline Actionable Jemperli (dostarlimab-gxly) is included in guidelines as systemic therapy for patients with recurrent or advanced ovarian cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org). detail...
FLT3 exon20 acute myeloid leukemia sensitive 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 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...
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...
BRAF V600E lung non-small cell carcinoma sensitive Vemurafenib Guideline Actionable Zelboraf (vemurafenib) is in guidelines for metastatic non-small cell lung cancer patients with BRAF V600E mutations who can not tolerate the combination of Mekinist (trametinib) and Tafinlar (dabrafenib) (NCCN.org). detail...
TP53 mutant CLL/SLL 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...
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...
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...
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...
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...
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...
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...
FGFR2 rearrange cholangiocarcinoma sensitive Infigratinib Guideline Actionable Truseltiq (infigratinib) is included in guidelines as a subsequent-line therapy for patients with cholangiocarcinoma harboring an FGFR2 fusion or rearrangement (NCCN.org). detail...
ATM inact mut prostate cancer sensitive Olaparib Guideline Actionable Lynparza (olaparib) is included in guidelines as second-line therapy post androgen receptor-directed therapy for patients with metastatic castration-resistant prostate cancer harboring pathogenic mutations in ATM (NCCN.org). detail...
MSH6 negative intrahepatic cholangiocarcinoma sensitive Pembrolizumab Guideline Actionable Keytruda (pembrolizumab) is included in guidelines as primary therapy for patients with unresectable or metastatic intrahepatic cholangiocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), or as subsequent-line therapy (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...
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...
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...
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...
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...
BRAF fusion pilocytic astrocytoma not applicable N/A Guideline Diagnostic BRAF fusions aid in the diagnosis of pilocytic astrocytoma (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...
TP53 loss CLL/SLL 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...
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...
MLH1 negative esophageal cancer 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 cancer that are unresectable, locally advanced, recurrent, or metastatic (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...
TSC1 mutant clear cell renal cell carcinoma not applicable N/A Guideline Risk Factor Germline mutations in TSC1 result in tuberous sclerosis complex (TSC), which is associated with increased risk of developing clear cell renal cancer (NCCN.org). detail...
VHL mutant clear cell renal cell carcinoma not applicable N/A Guideline Risk Factor Germline mutations in VHL result in von Hippel Lindau syndrome, which is associated with increased risk of developing clear cell renal cancer (NCCN.org). detail...
NRAS wild-type rectum cancer predicted - sensitive Panitumumab Guideline Actionable Vecitbix (pantitumumab), 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...
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...
RAD51D 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 RAD51D (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...
BRAF act mut thyroid gland cancer sensitive Vemurafenib Guideline Actionable Zelboraf (vemurafenib) therapy is included in guidelines for differentiated thyroid carcinoma patients with recurrent, advanced, or metastatic disease harboring BRAF activating mutations, in cases that are not surgically resectable or amenable to radioactive iodine (NCCN.org). detail...
IDH1 mutant glioblastoma not applicable N/A Guideline Diagnostic IDH1 mutations aid in the diagnosis of secondary grade IV glioblastomas (NCCN.org). detail...
ALK rearrange lung non-small cell carcinoma sensitive Crizotinib Guideline Actionable Xalkori (crizotinib) is included in guidelines as first-line and subsequent therapy for ALK rearranged non-small cell lung cancer (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 Guidelines). 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...
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...
MSH6 negative gallbladder cancer sensitive Dostarlimab-gxly Guideline Actionable Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for gallbladder cancer patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (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...
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 inflammatory myofibroblastic tumor sensitive Ceritinib Guideline Actionable Zykadia (ceritinib) is included in guidelines for inflammatory myofibroblastic tumor patients with ALK translocations (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...
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...
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...
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...
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...
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...
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...
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...
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...
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
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...
JAK2 exon12 polycythemia vera not applicable N/A Guideline Diagnostic JAK2 exon 12 mutations aid in the diagnosis of polycythemia vera (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...
MLH1 negative neuroendocrine tumor sensitive Pembrolizumab Guideline Actionable Keytruda (pembrolizumab) is included in guidelines as an option for patients with relapsed neuroendocrine tumors with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), and no alternative options (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...
MSH6 negative extrahepatic bile duct carcinoma sensitive Pembrolizumab Guideline Actionable Keytruda (pembrolizumab) is included in guidelines as primary therapy for patients with unresectable or metastatic extrahepatic cholangiocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), or as subsequent-line therapy (NCCN.org). detail...
MSH6 negative gastroesophageal junction adenocarcinoma 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) gastroesophageal junction cancer that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org). detail...
TP53 loss CLL/SLL 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...
TP53 loss CLL/SLL 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 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...
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...
SMARCB1 inact mut rhabdoid cancer not applicable N/A Guideline Diagnostic SMARCB1 inactivating mutations aid the diagnosis of extrarenal rhabdoid tumor (NCCN.org). detail...
SMARCB1 del epithelioid sarcoma not applicable N/A Guideline Diagnostic SMARCB1 deletion aids the diagnosis of epithelioid sarcoma (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...
CHEK1 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 CHEK1 (NCCN.org). detail...
TP53 loss CLL/SLL 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...
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...
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...
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 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 CLL/SLL sensitive Ofatumumab Guideline Actionable Arzerra (ofatumumab) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org). detail...
MLH1 mutant 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...
CTNNB1 mutant desmoid tumor not applicable N/A Guideline Diagnostic CTNNB1 mutations aid the diagnosis of desmoid tumor (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...
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...
BRAF V600X skin melanoma sensitive Dabrafenib + Trametinib Guideline Actionable Tafinlar (dabrafenib) and Mekinist (trametinib) 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...
CHEK2 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 CHEK2 (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...
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...
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...
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...
TP53 loss CLL/SLL 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...
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...
BRAF V600E/K skin melanoma sensitive Binimetinib + Encorafenib Guideline Actionable Braftovi (encorafenib) in combination with Mektovi (binimetinib) is included in guidelines as first-line and second-line therapy for patients with metastatic or unresectable cutaneous melanoma harboring BRAF V600E or V600K mutations (PMID: 30959471; NCCN.org). 30959471 detail...
MSH6 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...
MLH1 negative endometrial carcinoma sensitive Avelumab Guideline Actionable Bavencio (avelumab) is included in guidelines as a 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, metastatic, or high-risk endometrial carcinoma (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...
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...
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 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...
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...
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...
ALK rearrange lung non-small cell carcinoma sensitive Lorlatinib Guideline Actionable Lorbrena (lorlatinib) is included in guidelines as first-line therapy for patients with advanced or metastatic ALK-rearranged non-small cell lung cancer, and as subsequent therapy in patients who have progressed on Xalkori (crizotinib) and Alecensa (alectinib), Alunbrig (brigatinib), or Zykadia (ceritinib), or on Alecensa (alectinib), Alunbrig (brigatinib), or Zykadia (ceritinib) (NCCN.org). detail...
MLH1 negative stomach cancer 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) stomach cancer that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org). detail...
RET 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 RET rearrangement (NCCN.org). detail...
JAK2 mutant myelofibrosis not applicable N/A Guideline Diagnostic JAK2 mutations aid in the diagnosis of primary myelofibrosis (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...
CHEK2 mutant prostate cancer not applicable N/A Guideline Risk Factor Germline CHEK2 mutations are associated with increased risk of developing prostate cancer (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...
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...
ALK rearrange anaplastic large cell lymphoma not applicable N/A Guideline Diagnostic ALK rearrangement aids in the diagnosis of anaplastic large cell lymphoma (NCCN.org). detail...
IDH2 mutant acute myeloid leukemia sensitive Cytarabine + Venetoclax Guideline Actionable Venclexta (venetoclax) in combination with Cytosar-U (cytarabine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH2 mutation (NCCN.org). detail...
RET S891X thyroid gland medullary carcinoma not applicable N/A Guideline Risk Factor Germline RET S891X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with increased risk of developing thyroid medullary carcinoma (NCCN.org). detail...
MSH6 negative 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...
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...
MLH1 negative gallbladder cancer sensitive Pembrolizumab Guideline Actionable Keytruda (pembrolizumab) is included in guidelines as primary therapy for patients with unresectable or metastatic gallbladder 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), or as subsequent-line therapy (NCCN.org). detail...
RET rearrange lung non-small cell carcinoma no benefit Atezolizumab 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 RET rearrangement (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...
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...
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...
TP53 mutant CLL/SLL 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...
MSH6 negative endometrial carcinoma sensitive Dostarlimab-gxly Guideline Actionable Jemperli (dostarlimab-gxly) is included in guidelines as a 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, metastatic, or high-risk endometrial carcinoma (NCCN.org). detail...
BRAF V600X skin melanoma sensitive Atezolizumab + Cobimetinib + Vemurafenib Guideline Actionable Tecentriq (atezolizumab), Zelboraf (vemurafenib), and Cotellic (cobimetinib) combination therapy is included in guidelines as a preferred first-line therapy for patients with metastatic or unresectable cutaneous melanoma harboring a BRAF V600 activating 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...
IDH1 mutant cholangiocarcinoma sensitive Ivosidenib Guideline Actionable Tibsovo (ivosidenib) is included in guidelines as subsequent therapy for cholangiocarcinoma patients harboring IDH1 mutations (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...
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...
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 vulva squamous cell carcinoma 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 squamous cell carcinoma (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...
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...
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...
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...
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...
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...
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...
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...
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 V600E colon cancer resistant Panitumumab Guideline Actionable Vectibix (panitumumab), as a monotherapy, is not indicated for use in colon cancer patients with BRAF V600E (NCCN.org). detail...
MLH1 negative 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...
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...
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...
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...
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...
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, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN Guidelines). 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...
MLH1 negative endometrial carcinoma sensitive Pembrolizumab Guideline Actionable Keytruda (pembrolizumab) is included in guidelines as a preferred second-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...
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...
FGFR2 mutant transitional cell carcinoma sensitive Erdafitinib Guideline Actionable Balversa (erdafitinib) is included in the guidelines for patients with advanced or metastatic urothelial carcinoma harboring Fgfr2 alterations after progression on platinum-based regimens (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...
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...
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...
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...
TP53 loss CLL/SLL 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...
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...
IDH1 mutant anaplastic astrocytoma not applicable N/A Guideline Diagnostic IDH1 mutations aid in the diagnosis of grade III astrocytomas (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...
TP53 mutant CLL/SLL 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...
TP53 loss CLL/SLL 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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
RAD54L 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 RAD54L (NCCN.org). detail...
RET C620X thyroid gland medullary carcinoma not applicable N/A Guideline Risk Factor Germline RET C620X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with high risk of developing thyroid medullary carcinoma (NCCN.org). detail...
FLT3 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...
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...
FLT3 exon15 acute myeloid leukemia sensitive Cytarabine + Daunorubicin + Midostaurin Guideline Actionable Rydapt (midostaurin), in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine), is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org). detail...
BRAF 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...
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...
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...
MSH6 negative endometrial carcinoma sensitive Pembrolizumab Guideline Actionable Keytruda (pembrolizumab) is included in guidelines as a preferred second-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...
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...
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...
KMT2A - MLLT3 acute myeloid leukemia not applicable N/A Guideline Prognostic KMT2A-MLLT3 fusions are associated with an intermediate prognosis in patients with non-APL acute myeloid leukemia (NCCN.org). detail...
ALK rearrange lung non-small cell carcinoma no benefit Osimertinib Guideline Actionable EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) are not indicated for use as subsequent therapy in ALK rearranged non-small cell lung cancer patients who relapsed on Alecensa (alectinib), Xalkori (crizotinib), or Zykadia (ceritinib) (NCCN.org). detail...
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...
MLH1 negative extrahepatic bile duct carcinoma sensitive Dostarlimab-gxly Guideline Actionable Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for extrahepatic cholangiocarcinoma 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 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...
TP53 mutant CLL/SLL sensitive Ofatumumab Guideline Actionable Arzerra (ofatumumab) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 mutation (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...
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...
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...
TP53 loss CLL/SLL 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...
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...
IDH2 mutant high grade glioma not applicable N/A Guideline Diagnostic IDH2 mutations aid in the diagnosis of gliomas (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...
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...
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 small intestine adenocarcinoma sensitive Ipilimumab + Nivolumab Guideline Actionable Opdivo (nivolumab) in combination with Yervoy (ipilimumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org). detail...
FLT3 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...
MLH1 negative gastroesophageal junction adenocarcinoma 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) gastroesophageal junction cancer that are unresectable, locally advanced, recurrent, or metastatic (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...
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...
TP53 loss CLL/SLL 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...
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...
TP53 mutant CLL/SLL 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...
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, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN Guidelines). 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...
TP53 loss CLL/SLL sensitive Alemtuzumab + Rituximab Guideline Actionable Campath (alemtuzumab) 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...
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...
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...
ABL1 rearrange myeloid neoplasm sensitive Dasatinib Guideline Actionable Sprycel (dasatinib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a ABL1 rearrangement (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 Guidelines). 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...
RET M918X thyroid gland medullary carcinoma not applicable N/A Guideline Risk Factor Germline RET M918X mutations result in multiple endocrine neoplasia, type 2B (MEN 2B), which is associated with high risk of developing thyroid medullary carcinoma (NCCN.org). detail...
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...
MLH1 negative endometrial carcinoma sensitive Nivolumab Guideline Actionable Opdivo (nivolumab) is included in guidelines as a 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, metastatic, or high-risk endometrial carcinoma (NCCN.org). detail...
MSH6 negative extrahepatic bile duct carcinoma sensitive Dostarlimab-gxly Guideline Actionable Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for extrahepatic cholangiocarcinoma 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 testicular germ cell cancer sensitive Pembrolizumab Guideline Actionable Keytruda (pembrolizumab) is included in guidelines as a third-line therapy for metastatic testicular germ cell cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org). detail...
BRAF 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...
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...
RET V804M RET E805K thyroid gland medullary carcinoma not applicable N/A Guideline Risk Factor Compound germline RET V840M 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...
TP53 loss CLL/SLL 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...
TP53 mutant CLL/SLL 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...
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...
MLH1 negative vulva squamous cell carcinoma 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 squamous cell carcinoma (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...
ROS1 rearrange lung non-small cell carcinoma sensitive Entrectinib Guideline Actionable Rozlytrek (entrectinib) is included in guidelines as a preferred therapy for patients with advanced or metastatic ROS1 rearrangement-positive non-small cell lung cancer (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...
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...
TP53 mutant CLL/SLL 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...
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...
TP53 mutant CLL/SLL sensitive Lenalidomide + Rituximab Guideline Actionable Revlimid (lenalidomide) combined with Rituxan (rituximab) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org). detail...
MLH1 negative 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...
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 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...
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...
TP53 mutant CLL/SLL 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...
APC mutant small intestine adenocarcinoma not applicable N/A Guideline Risk Factor Familial adenomatous polyposis results from germline mutations in the APC gene, and is associated with increased risk of developing small bowel adenocarcinoma (NCCN.org). detail...
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
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 CLL/SLL 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...
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...
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...
KIT exon9 gastrointestinal stromal tumor sensitive Imatinib Guideline Actionable Gleevec (imatinib) is included in guidelines for patients with gastrointestinal stromal tumor (GIST) harboring KIT exon 9 mutations (NCCN.org). detail...
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...
ALK rearrange anaplastic large cell lymphoma sensitive Crizotinib Guideline Actionable Xalkori (crizotinib) is included in guidelines as second-line and subsequent therapy for patients with anaplastic large cell lymphoma harboring ALK rearrangements (NCCN.org). detail...
BRAF V600E/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...
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...
RET rearrange lung non-small cell carcinoma sensitive Vandetanib Guideline Actionable Caprelsa (vandetanib) is in guidelines for non-small cell lung cancer patients with RET rearrangements (NCCN.org). detail...
FGFR2 mutant bladder urothelial carcinoma sensitive Erdafitinib Guideline Actionable Balversa (erdafitinib) is included in the guidelines for patients with advanced or metastatic urothelial carcinoma harboring Fgfr2 alterations after progression on platinum-based regimens (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...
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...
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...
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...
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...
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...
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...
APC mutant desmoid tumor not applicable N/A Guideline Diagnostic APC mutations aid the diagnosis of desmoid tumor (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...
BRAF V600E lung non-small cell carcinoma sensitive Dabrafenib + Trametinib Guideline Actionable Combination of Mekinist (trametinib) and Tafinlar (dabrafenib) is in guidelines for metastatic non-small cell lung cancer patients with BRAF V600E mutations (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...
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...
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...
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 Guidelines). 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 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...
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...
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 intrahepatic cholangiocarcinoma sensitive Dostarlimab-gxly Guideline Actionable Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for intrahepatic cholangiocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org). detail...
BRAF V600E skin melanoma sensitive Dabrafenib + Trametinib Guideline Actionable Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines for cutaneous melanoma patients harboring a BRAF V600 activating mutation, such as BRAF V600E, as adjuvant therapy for stage III disease and as systemic therapy for patients with unresectable or metastatic disease (NCCN.org). detail...
RET rearrange lung non-small cell carcinoma sensitive Pralsetinib Guideline Actionable Gavreto (pralsetinib) is included in guidelines as a first-line therapy for non-small cell lung cancer patients with RET rearrangements (NCCN.org). detail...
FLT3 exon23 acute myeloid leukemia sensitive Gilteritinib Guideline Actionable Xospata (gilteritinib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org). detail...
TP53 loss CLL/SLL 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...
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...
MSH6 negative stomach cancer sensitive Dostarlimab-gxly Guideline Actionable Jemperli (dostarlimab-gxly) is included in guidelines as 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...
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...
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...
MLH1 negative intrahepatic cholangiocarcinoma sensitive Dostarlimab-gxly Guideline Actionable Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for intrahepatic cholangiocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org). detail...
RET rearrange lung non-small cell carcinoma no benefit Pembrolizumab 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 RET rearrangement (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...
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...
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...
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, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN Guidelines). 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...
RET rearrange lung non-small cell carcinoma sensitive Selpercatinib Guideline Actionable Retevmo (selpercatinib) is in guidelines for non-small cell lung cancer patients with RET rearrangements (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...
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...
IDH2 mutant high grade glioma not applicable N/A Guideline Prognostic IDH2 mutations are associated with a favorable prognosis in patients with glioma, and are associated with a survival benefit for patients treated with radiation or alkylator therapy (NCCN.org). detail...
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 Guidelines). 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...
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...
FLT3 exon23 acute myeloid leukemia sensitive Cytarabine + Daunorubicin + Midostaurin Guideline Actionable Rydapt (midostaurin), in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine), is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org). detail...
MSH6 negative gallbladder cancer sensitive Pembrolizumab Guideline Actionable Keytruda (pembrolizumab) is included in guidelines as primary therapy for patients with unresectable or metastatic gallbladder 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), or as subsequent-line therapy (NCCN.org). detail...
MSH6 negative chordoma sensitive Pembrolizumab Guideline Actionable Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic chordoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org). detail...
MSH6 negative neuroendocrine tumor sensitive Pembrolizumab Guideline Actionable Keytruda (pembrolizumab) is included in guidelines as an option for patients with relapsed neuroendocrine tumors with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), and no alternative options (NCCN.org). detail...
TP53 mutant CLL/SLL 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...
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 who have progressed on Xalkori (crizotinib) or Zykadia (ceritinib) (NCCN.org). detail...
RET rearrange lung non-small cell carcinoma sensitive Cabozantinib Guideline Actionable Cometriq (cabozantinib) is in guidelines for non-small cell lung cancer patients with RET rearrangements (NCCN.org). detail...
MLH1 negative colon cancer sensitive Dostarlimab-gxly Guideline Actionable Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org). detail...
TP53 mutant CLL/SLL 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...
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...
MLH1 negative ovarian cancer sensitive Dostarlimab-gxly Guideline Actionable Jemperli (dostarlimab-gxly) is included in guidelines as systemic therapy for patients with recurrent or advanced ovarian 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 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...
JAK2 V617F polycythemia vera not applicable N/A Guideline Diagnostic JAK2 V617F aids in the diagnosis of polycythemia vera (NCCN.org). detail...
RAD51B 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 RAD51B (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...
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...
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...
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...
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...
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 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...
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...
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...
MLH1 negative gallbladder cancer sensitive Dostarlimab-gxly Guideline Actionable Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for gallbladder cancer patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org). detail...
NRAS mutant Erdheim-Chester disease sensitive Cobimetinib Guideline Actionable Cotellic (cobimetinib) is included in guidelines as preferred first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring mutations in the MAPK pathway such as ARAF, NRAS, KRAS, MAP2K1, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN Guidelines). 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...
TSC2 mutant islet cell tumor not applicable N/A Guideline Risk Factor Germline mutations in TSC2 result in tuberous sclerosis complex (TSC), which is associated with increased risk of developing pancreatic neuroendocrine tumors (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...
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...
TP53 mutant CLL/SLL 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...
MSH6 negative endometrial carcinoma sensitive Nivolumab Guideline Actionable Opdivo (nivolumab) is included in guidelines as a 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, metastatic, or high-risk endometrial carcinoma (NCCN.org). detail...
MSH6 negative endometrial carcinoma sensitive Avelumab Guideline Actionable Bavencio (avelumab) is included in guidelines as a 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, metastatic, or high-risk endometrial carcinoma (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...
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...
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 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...
TSC2 mutant clear cell renal cell carcinoma not applicable N/A Guideline Risk Factor Germline mutations in TSC2 result in tuberous sclerosis complex (TSC), which is associated with increased risk of developing clear cell renal cancer (NCCN.org). detail...
MSH6 negative ovarian cancer sensitive Pembrolizumab Guideline Actionable Keytruda (pembrolizumab) is included in guidelines as systemic therapy for patients with recurrent ovarian cancer with MSH6 deficiency (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...
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
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...
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...
IDH1 mutant polycythemia vera not applicable N/A Guideline Prognostic IDH1 mutations are associated with inferior overall survival in patients with polycythemia vera (NCCN.org). detail...
FGFR2 fusion cholangiocarcinoma sensitive Infigratinib Guideline Actionable Truseltiq (infigratinib) is included in guidelines as a subsequent-line therapy for patients with cholangiocarcinoma harboring an FGFR2 fusion or rearrangement (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...
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...
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...
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...
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...
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...
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...
MLH1 negative intrahepatic cholangiocarcinoma sensitive Pembrolizumab Guideline Actionable Keytruda (pembrolizumab) is included in guidelines as primary therapy for patients with unresectable or metastatic intrahepatic cholangiocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), or as subsequent-line therapy (NCCN.org). detail...
VHL mutant islet cell tumor not applicable N/A Guideline Risk Factor Germline mutations in VHL result in von Hippel Lindau syndrome, which is associated with increased risk of developing pancreatic neuroendocrine tumors (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...
IDH1 mutant acute myeloid leukemia sensitive Decitabine Guideline Actionable Dacogen (decitabine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH1 mutation (NCCN.org). detail...
BRAF 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...
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...
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...
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...
IDH2 wild-type high grade glioma not applicable N/A Guideline Risk Factor IDH2 wild-type is associated with increased risk of aggressive disease in patients with grade II or III infiltrative gliomas (NCCN.org). detail...
TP53 loss CLL/SLL 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...
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...
ALK rearrange lung non-small cell carcinoma sensitive Alectinib Guideline Actionable Alecensa (alectinib) is included in guidelines as the preferred first-line therapy and as subsequent therapy for patients with ALK-rearranged advanced or metastatic non-small cell lung cancer (NCCN.org). detail...
ABL1 rearrange myeloid neoplasm sensitive Nilotinib Guideline Actionable Tasigna (nilotinib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a ABL1 rearrangement (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...
MLH1 negative prostate adenocarcinoma sensitive Pembrolizumab Guideline Actionable Keytruda (pembrolizumab) is included in guidelines as a second-line therapy for patients with advanced or metastatic prostate adenocarcinoma cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org). detail...
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...
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 testicular germ cell cancer sensitive Pembrolizumab Guideline Actionable Keytruda (pembrolizumab) is included in guidelines as a third-line therapy for metastatic testicular germ cell cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org). detail...
FLT3 exon18 acute myeloid leukemia sensitive Cytarabine + Daunorubicin + Midostaurin Guideline Actionable Rydapt (midostaurin), in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine), is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org). detail...
IDH1 mutant acute myeloid leukemia sensitive Ivosidenib Guideline Actionable Tibsovo (ivosidenib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring an IDH1 mutation (NCCN.org). detail...
RET E768X thyroid gland medullary carcinoma not applicable N/A Guideline Risk Factor Germline RET E768X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with increased risk of developing thyroid medullary carcinoma (NCCN.org). detail...
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...
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...
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...
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...
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...
RAD51C 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 RAD51C (NCCN.org). detail...
BRAF act mut thyroid gland cancer sensitive Dabrafenib Guideline Actionable Tafinlar (dabrafenib) therapy is included in guidelines for differentiated thyroid carcinoma patients with recurrent, advanced, or metastatic disease harboring BRAF activating mutations, in cases that are not surgically resectable or amenable to radioactive iodine (NCCN.org). detail...
MLH1 negative ovarian cancer sensitive Pembrolizumab Guideline Actionable Keytruda (pembrolizumab) is included in guidelines as systemic therapy for patients with recurrent ovarian cancer with MLH1 deficiency (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...
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...
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...
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...
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 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...
MLH1 negative small intestine adenocarcinoma sensitive Pembrolizumab Guideline Actionable Keytruda (pembrolizumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org). detail...
SMARCB1 inact mut epithelioid sarcoma not applicable N/A Guideline Diagnostic SMARCB1 inactivating mutations aid the diagnosis of epithelioid sarcoma (NCCN.org). detail...
TSC1 mutant islet cell tumor not applicable N/A Guideline Risk Factor Germline mutations in TSC1 result in tuberous sclerosis complex (TSC), which is associated with increased risk of developing pancreatic neuroendocrine tumors (NCCN.org). detail...
BRAF V600E skin melanoma sensitive Dabrafenib Guideline Actionable Tafinlar (dabrafenib) therapy is included in guidelines for cutaneous melanoma patients with unresectable or metastatic disease harboring BRAF V600 activating mutations, such as BRAF V600E, in cases where BRAF/MEK inhibitor combination therapy is contraindicated (NCCN.org). detail...
BRAF 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...
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 Guidelines). detail...
IDH2 mutant oligodendroglioma not applicable N/A Guideline Diagnostic IDH2 mutations aid in the diagnosis of oligodendrogliomas (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...
RET V804M RET Y806C thyroid gland medullary carcinoma not applicable N/A Guideline Risk Factor Compound germline RET V840M 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...
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, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN Guidelines). 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...
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...
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...
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...
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...
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...
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...
MSH6 negative esophageal cancer 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 cancer that are unresectable, locally advanced, recurrent, or metastatic (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 Guidelines). detail...
MLH1 negative extrahepatic bile duct carcinoma sensitive Pembrolizumab Guideline Actionable Keytruda (pembrolizumab) is included in guidelines as primary therapy for patients with unresectable or metastatic extrahepatic cholangiocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), or as subsequent-line therapy (NCCN.org). detail...
MLH1 negative stomach cancer sensitive Dostarlimab-gxly Guideline Actionable Jemperli (dostarlimab-gxly) is included in guidelines as 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...