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Gene JAK2
Variant V617F
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 V617F lies within the protein kinase domain 1 of the Jak2 protein (UniProt.org). V617F results in constitutive activation of Jak2 and downstream Stat5 and Erk, is transforming in cell culture, and leads to development of erythrocytosis in mouse models (PMID: 15858187, PMID: 15837627, PMID: 15793561, PMID: 28473624).
Associated Drug Resistance

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Transcript NM_004972.3
gDNA chr9:g.5073770G>T
cDNA c.1849G>T
Protein p.V617F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322195 chr9:g.5073770G>T c.1849G>T p.V617F RefSeq GRCh38/hg38
NM_001322194 chr9:g.5073770G>T c.1849G>T p.V617F RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5073770G>T c.1849G>T p.V617F RefSeq GRCh38/hg38
NM_001322196 chr9:g.5073770G>T c.1849G>T p.V617F RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5073770G>T c.1849G>T p.V617F RefSeq GRCh38/hg38
NM_004972 chr9:g.5073770G>T c.1849G>T p.V617F RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5073770G>T c.1849G>T p.V617F RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5073770G>T c.1849G>T p.V617F RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
JAK2 V617F essential thrombocythemia predicted - sensitive INCB053914 Preclinical - Patient cell culture Actionable In a preclinical study, INCB053914 inhibited erythroid colony formation in cells derived from patient with myeloproliferative neoplasms (MPNs), including essential thrombocythemia, harboring JAK2 V617F in culture (PMID: 29927999). 29927999
JAK2 V617F acute myeloid leukemia sensitive Go6976 Preclinical Actionable In a preclinical study, Go 6976 inhibited proliferation of cultured acute myeloid leukemia cells expressing the JAK2 V617F mutation (PMID: 16956345). 16956345
JAK2 V617F myeloproliferative neoplasm predicted - sensitive C220 Preclinical - Cell line xenograft Actionable In a preclinical study, C220 treatment inhibited cell proliferation of myeloproliferative neoplasm cell lines, including a Jakafi (ruxolitinib)-persistent cell line, expressing JAK V617F in culture, and inhibited tumor growth, with a 71% tumor reduction, in a cell line xenograft model (PMID: 32669286). 32669286
JAK2 V617F polycythemia vera sensitive Ropeginterferon Clinical Study - Cohort Actionable In a clinical study using data from a Phase III trial, polycythemia vera patients demonstrated significant reduction in the median JAK2 V617F mutational burden at 12 months following treatment with Ropeginterferon compared to Droxia (hydroxyurea) (13.8% vs. 33.2%; p<0.02) (PMID: 30287855; NCT01949805). 30287855
JAK2 V617F polycythemia vera sensitive Ropeginterferon Preclinical - Patient cell culture Actionable In a preclinical study, patient-derived erythroid progenitors harboring JAK2 V617F demonstrated sensitivity to Ropeginterferon in culture (PMID: 30287855). 30287855
JAK2 V617F myeloid leukemia resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed mouse myeloid cells over expressing JAK2 V617F were resistant to Gleevec (imatinib) in culture (PMID: 21224473). 21224473
JAK2 V617F myeloproliferative neoplasm sensitive Ropeginterferon Preclinical - Cell culture Actionable In a preclinical study, Ropeginterferon treatment resulted in dose-dependent inhibition of cell proliferation in myeloproliferative neoplasm cell lines harboring JAK2 V617F in culture (PMID: 30287855). 30287855
JAK2 V617F leukemia predicted - sensitive LGH447 + Ribociclib + Ruxolitinib Preclinical - Cell line xenograft Actionable In a preclinical study, combination treatment with Jakafi (ruxolitinib), LGH447, and Kisqali (ribociclib) led to complete tumor regression in a cell line xenograft model of leukemia harboring JAK2 V617F (PMID: 33782031). 33782031
JAK2 V617F bone marrow cancer sensitive AZD1208 + Ruxolitinib Preclinical Actionable In a preclinical study, Jakafi (ruxolitinib) worked synergistically with AZD1208 to inhibit proliferation of myeloproliferative cancer cell lines harboring JAK2 V617F in culture (PMID: 26472029). 26472029
JAK2 V617F acute myeloid leukemia sensitive Ruxolitinib + Tenalisib Preclinical Actionable In a preclinical study, Tenalisib (RP6530) worked synergistically with Jakafi (ruxolitinib) to inhibit proliferation of Jakafi (ruxolitinib)-resistant erythroleukemia cell lines carrying JAK2 V617F mutation ( Cancer Res August 1, 2015 75; 2704 ). detail...
JAK2 V617F Advanced Solid Tumor sensitive Pictilisib + Ruxolitinib Preclinical Actionable In a preclinical study, Jakafi (ruxolitinib) and Pictilisib (GDC-0941) synergistically inhibited growth of transformed cell lines over expressing JAK2 V617F in cell culture (PMID: 24251790). 24251790
JAK2 V617F Advanced Solid Tumor sensitive Dactolisib + Ruxolitinib Preclinical Actionable In a preclinical study, Jakafi (ruxolitinib) and BEZ235 synergistically inhibited growth of transformed cell lines over expressing JAK2 V617F in cell culture (PMID: 24251790). 24251790
JAK2 V617F hematologic cancer sensitive Ilginatinib Preclinical Actionable In a preclinical study, cells expressing JAK2 V617F were sensitive to treatment with NS-108, demonstrating cell growth inhibition and increased apoptotic activity in culture and improved survival in transgenic mouse models (PMID: 22829185). 22829185
JAK2 V617F acute myeloid leukemia sensitive A-1155463 Preclinical Actionable In a preclinical study, acute myeloid leukemia cells harboring JAK2 V617F demonstrated sensitivity to A-1155463 in culture (PMID: 25787766). 25787766
JAK2 V617F myelofibrosis predicted - sensitive INCB053914 Preclinical - Patient cell culture Actionable In a preclinical study, INCB053914 inhibited erythroid colony formation in cells derived from patients with myeloproliferative neoplasms (MPNs), including primary myelofibrosis, harboring JAK2 V617F in culture (PMID: 29927999). 29927999
JAK2 V617F polycythemia vera predicted - sensitive C220 Preclinical Actionable In a preclinical study, C220 treatment in a transgenic mouse model of polycythemia vera expressing JAK2 V617F resulted in decreased white blood cell counts, reduced spleen size with decreased extramedullary hematopoeisis, and decreased myeloproliferation, and altered the proportion of erythroid progenitors and erythroblasts (PMID: 32669286). 32669286
JAK2 V617F polycythemia vera predicted - sensitive C220 + Ruxolitinib Preclinical Actionable In a preclinical study, combination of C220 and Jakafi (ruxolitinib) treatment in a transgenic mouse model of polycythemia vera expressing JAK2 V617F resulted in reduced white blood cell count, decreased spleen and liver size, reduced bone marrow hypercellularity, reduced erythroid, megakaryocyte and myeloid progenitors, and inhibition of inflammatory cytokines to a greater degree than single agent alone. (PMID: 32669286). 32669286
JAK2 V617F bone marrow cancer decreased response SGI-1776 Preclinical Actionable In a preclinical study, myeloproliferative cancer cell lines harboring JAK2 V617F demonstrated reduced sensitivity to SGI-1776 induced growth inhibition in culture (PMID: 26472029). 26472029
JAK2 V617F myelofibrosis predicted - sensitive C220 Preclinical - Patient cell culture Actionable In a preclinical study, patient-derived primary myelofibrosis cells harboring JAK2 V617F and positive for CD34 were sensitive to C220 treatment in culture (PMID: 32669286). 32669286
JAK2 V617F myeloproliferative neoplasm predicted - sensitive C220 + Ruxolitinib Preclinical - Cell line xenograft Actionable In a preclinical study, combination of C220 and Jakafi (ruxolitinib) treatment led to additive effects, resulting in inhibition of proliferation of myeloproliferative neoplasm cell lines expressing JAK2 V617F in culture, and inhibited tumor growth, with a 73% tumor reduction, in a cell line xenograft model (PMID: 32669286). 32669286
JAK2 V617F myeloproliferative neoplasm sensitive LGH447 + Ribociclib + Ruxolitinib Preclinical Actionable In a preclinical study, combination treatment with Jakafi (ruxolitinib), LGH447, and Kisqali (ribociclib) led to decreased white blood cell and platelet counts, decreased spleen size compared to Jakafi (ruxolitinib) treatment alone, and normocellular bone marrow with appropriate maturation a mouse model of myeloproliferative neoplasm harboring JAK2 V617F (PMID: 33782031). 33782031
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...
JAK2 V617F bone marrow cancer sensitive CHZ868 Preclinical Actionable In a preclinical study, CHZ868 inhibited proliferation of myeloproliferative neoplasm cells harboring JAK2 V617F , including cells with decreased response to Type I JAK inhibitors following chronic exposure, and decreased mutant allele burden in a mouse polycythemia vera model expressing JAK2 V617F (PMID: 26175413). 26175413
JAK2 V617F myeloproliferative neoplasm predicted - sensitive Gandotinib Phase I Actionable In a Phase I trial, treatment with Gandotinib (LY2784544) demonstrated safety in myeloproliferative neoplasm patients harboring JAK2 V617F and resulted in clinical improvement as best response in 29% (9/31) patients with myelofibrosis (PMID: 28934680). 28934680
JAK2 V617F myeloproliferative neoplasm sensitive BMS-911543 Preclinical - Cell culture Actionable In a preclinical study, BMS-911543 inhibited colony growth in myeloproliferative neoplasm patient-derived hematopoetic progenitor cells harboring JAK2 V617F in culture (PMID: 22015772). 22015772
JAK2 V617F acute megakaryocytic leukemia sensitive Ropeginterferon Preclinical - Cell culture Actionable In a preclinical study, a megakaryoblastic leukemia cell line expressing JAK2 V617F demonstrated inhibition of cell proliferation in culture when treated with Ropeginterferon (PMID: 30287855). 30287855
JAK2 V617F Advanced Solid Tumor sensitive Ruxolitinib + ZSTK474 Preclinical Actionable In a preclinical study, Jakafi (ruxolitinib) and ZSTK474 synergistically inhibited growth of transformed cell lines over expressing JAK2 V617F in cell culture (PMID: 24251790). 24251790
JAK2 V617F Advanced Solid Tumor sensitive Ruxolitinib + TGX-221 Preclinical Actionable In a preclinical study, Jakafi (ruxolitinib) and TGX-221 synergistically inhibited growth of transformed cell lines over expressing JAK2 V617F in cell culture (PMID: 24251790). 24251790
JAK2 V617F hematologic cancer predicted - sensitive C220 Preclinical - Cell culture Actionable In a preclinical study, C220 treatment inhibited proliferation of transformed cells expressing JAK2 V617F in culture (PMID: 32669286). 32669286
JAK2 V617F essential thrombocythemia sensitive BMS-911543 Preclinical - Cell culture Actionable In a preclinical study, BMS-911543 inhibited proliferation and induced apoptosis in an essential thrombocythemia cell line harboring JAK2 V617F in culture (PMID: 22015772). 22015772
JAK2 V617F hematologic cancer sensitive SHP099 Preclinical - Cell culture Actionable In a preclinical study, SHP099 inhibited proliferation of a hematopoietic cancer cell line harboring JAK2 V617F in culture (PMID: 27362227). 27362227
JAK2 V617F bone marrow cancer sensitive Ruxolitinib + SGI-1776 Preclinical Actionable In a preclinical study, Jakafi (ruxolitinib) worked synergistically with SGI-1776 to inhibit proliferation of myeloproliferative cancer cell lines harboring JAK2 V617F in culture (PMID: 26472029). 26472029
JAK2 V617F hematologic cancer sensitive BMS-911543 Preclinical - Cell culture Actionable In a preclinical study, BMS-911543 inhibited proliferation of transformed cells expressing JAK2 V617F in culture (PMID: 22015772). 22015772
JAK2 V617F polycythemia vera not applicable N/A Guideline Diagnostic JAK2 V617F aids in the diagnosis of polycythemia vera (NCCN.org). detail...
JAK2 V617F bone marrow cancer decreased response AZD1208 Preclinical Actionable In a preclinical study, myeloproliferative cancer cell lines harboring JAK2 V617F demonstrated reduced sensitivity to AZD1208 induced growth inhibition in culture (PMID: 26472029). 26472029
JAK2 V617F acute megakaryocytic leukemia sensitive AZ960 Preclinical - Cell culture Actionable In a preclinical study, AZ960 treatment induced apoptosis, decreased Stat3/5 phosphorylation and downstream signaling, and inhibited proliferation of a megakaryoblastic leukemia cell line harboring JAK2 V617F in culture (PMID: 18775810). 18775810
JAK2 V617F polycythemia vera predicted - sensitive INCB053914 Preclinical - Patient cell culture Actionable In a preclinical study, INCB053914 inhibited erythroid colony formation in cells derived from patients with myeloproliferative neoplasms, including polycythemia vera, harboring JAK2 V617F in culture (PMID: 29927999). 29927999
JAK2 V617F JAK2 Y931C hematologic cancer resistant Momelotinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing the JAK2 V617F and JAK2 Y931C double mutation demonstrated resistance to Momelotinib in culture (PMID: 21926964). 21926964
JAK2 V617F JAK2 Y931C hematologic cancer resistant AZD1480 Preclinical - Cell culture Actionable In a preclinical study, cells expressing the JAK2 V617F and JAK2 Y931C double mutation demonstrated resistance to AZD1480 in culture (PMID: 21926964). 21926964
JAK2 V617F JAK2 Y931C Advanced Solid Tumor sensitive Fedratinib Preclinical - Cell culture Actionable In a preclinical study, Inrebic (fedratinib) treatment inhibited colony formation and proliferation of transformed cells expressing JAK2 V617F and Y931C in culture (PMID: 26419724). 26419724
JAK2 V617F JAK2 Y931C hematologic cancer resistant Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing the JAK2 V617F and JAK2 Y931C double mutation demonstrated resistance to Jakafi (Ruxolitinib) in culture (PMID: 21926964). 21926964
JAK2 V617F JAK2 Y931C hematologic cancer resistant Lestaurtinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing the JAK2 V617F and JAK2 Y931C double mutation demonstrated resistance to Lestaurtinib (CEP-701) in culture (PMID: 21926964). 21926964
JAK2 V617F JAK2 Y931C cancer resistant Ruxolitinib Preclinical Actionable In a preclinical study, cells harboring the JAK2 V617F/Y931C double mutation displayed resistance to ATP-competetive JAK inhibitors, such as Jakafi (Ruxolitinib) (PMID: 21393331). 21393331
JAK2 V617F JAK2 Y931C hematologic cancer resistant Fedratinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing the JAK2 V617F and JAK2 Y931C double mutation demonstrated resistance to Inrebic (fedratinib) in culture (PMID: 21926964). 21926964
JAK2 V617F JAK2 E864K hematologic cancer resistant NVP-BVB808 Preclinical Actionable In a preclinical study, immune cells expressing the JAK2 V617F and JAK2 E864K double mutation demonstrated resistance to NVP-BVB808 in culture (PMID: 22271575). 22271575
JAK2 V617F JAK2 E864K hematologic cancer resistant NVP-BSK805 Preclinical - Cell culture Actionable In a preclinical study, immune cells expressing the JAK2 V617F and JAK2 E864K double mutation demonstrated resistance to NVP-BSK805 in culture (PMID: 22271575). 22271575
JAK2 V617F JAK2 E985K hematologic cancer resistant AZD1480 Preclinical - Cell culture Actionable In a preclinical study, cells expressing the JAK2 V617F and JAK2 E985K double mutation demonstrated resistance to AZD1480 in culture (PMID: 21926964). 21926964
JAK2 V617F JAK2 E985K hematologic cancer resistant Momelotinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing the JAK2 V617F and JAK2 E985K double mutation demonstrated resistance to Momelotinib in culture (PMID: 21926964). 21926964
JAK2 V617F JAK2 E985K hematologic cancer resistant Ruxolitinib Preclinical Actionable In a preclinical study, immune cells expressing the JAK2 V617F and JAK2 E985K double mutation demonstrated resistance to Jakafi (Ruxolitinib) in culture (PMID: 21926964). 21926964
JAK2 V617F JAK2 E985K hematologic cancer resistant Lestaurtinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing the JAK2 V617F and JAK2 E985K double mutation demonstrated resistance to Lestaurtinib (CEP-701) in culture (PMID: 21926964). 21926964
JAK2 V617F JAK2 E985K hematologic cancer resistant Fedratinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing the JAK2 V617F and JAK2 E985K double mutation demonstrated resistance to Inrebic (fedratinib) in culture (PMID: 21926964). 21926964
JAK2 V617F JAK2 G935R hematologic cancer resistant NVP-BSK805 Preclinical - Cell culture Actionable In a preclinical study, immune cells expressing the JAK2 V617F and JAK2 G935R double mutation demonstrated resistance to NVP-BSK805 in culture (PMID: 22271575). 22271575
JAK2 V617F JAK2 G935R hematologic cancer resistant Fedratinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing the JAK2 V617F and JAK2 G935R double mutation demonstrated resistance to Inrebic (fedratinib) in culture (PMID: 21926964). 21926964
JAK2 V617F JAK2 G935R hematologic cancer resistant AZD1480 Preclinical - Cell culture Actionable In a preclinical study, cells expressing the JAK2 V617F and JAK2 G935R double mutation demonstrated resistance to AZD1480 in culture (PMID: 21926964). 21926964
JAK2 V617F JAK2 G935R hematologic cancer resistant Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, immune cells expressing the JAK2 V617F and JAK2 G935R double mutation demonstrated resistance to Jakafi (Ruxolitinib) in culture (PMID: 22271575). 22271575
JAK2 V617F JAK2 G935R hematologic cancer resistant NVP-BVB808 Preclinical Actionable In a preclinical study, immune cells expressing the JAK2 V617F and JAK2 G935R double mutation demonstrated resistance to NVP-BVB808 in culture (PMID: 22271575). 22271575
JAK2 V617F JAK2 G935R hematologic cancer resistant Momelotinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing the JAK2 V617F and JAK2 G935R double mutation demonstrated resistance to Momelotinib in culture (PMID: 21926964). 21926964
JAK2 V617F JAK2 G935R hematologic cancer resistant Lestaurtinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing the JAK2 V617F and JAK2 G935R double mutation demonstrated resistance to Lestaurtinib (CEP-701) in culture (PMID: 21926964). 21926964
JAK2 V617F JAK2 I960V hematologic cancer resistant Momelotinib Preclinical Actionable In a preclinical study, immune cells expressing the JAK2 V617F and JAK2 I960V double mutation demonstrated resistance to Momelotinib in culture (PMID: 21926964). 21926964
JAK2 V617F JAK2 I960V hematologic cancer resistant Lestaurtinib Preclinical Actionable In a preclinical study, immune cells expressing the JAK2 V617F and JAK2 I960V double mutation demonstrated resistance to Lestauranib in culture (PMID: 21926964). 21926964
JAK2 V617F JAK2 I960V hematologic cancer resistant Ruxolitinib Preclinical Actionable In a preclinical study, immune cells expressing the JAK2 V617F and JAK2 I960V double mutation demonstrated resistance to Jakafi (Ruxolitinib) in culture (PMID: 21926964). 21926964
JAK2 V617F JAK2 I960V hematologic cancer resistant AZD1480 Preclinical Actionable In a preclinical study, immune cells expressing the JAK2 V617F and JAK2 I960V double mutation demonstrated resistance to AZD1480 in culture (PMID: 21926964). 21926964
JAK2 V617F JAK2 I960V hematologic cancer resistant Fedratinib Preclinical - Cell culture Actionable In a preclinical study, immune cells expressing the JAK2 V617F and JAK2 I960V double mutation demonstrated resistance to Inrebic (fedratinib) in culture (PMID: 21926964). 21926964
JAK2 V617F JAK2 M929I hematologic cancer predicted - sensitive Lestaurtinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing the JAK2 V617F and JAK2 M929I double mutation were sensitive to treatment with Lestaurtinib (CEP-701) in culture, demonstrating growth inhibition (PMID: 21926964). 21926964
JAK2 V617F JAK2 M929I hematologic cancer predicted - sensitive Momelotinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing the JAK2 V617F and JAK2 M929I double mutation were sensitive to treatment with Momelotinib in culture, demonstrating growth inhibition (PMID: 21926964). 21926964
JAK2 V617F JAK2 M929I hematologic cancer predicted - sensitive AZD1480 Preclinical - Cell culture Actionable In a preclinical study, cells expressing the JAK2 V617F and JAK2 M929I double mutation were sensitive to treatment with AZD1480 in culture, demonstrating growth inhibition (PMID: 21926964). 21926964
JAK2 V617F JAK2 M929I hematologic cancer resistant Ruxolitinib Preclinical Actionable In a preclinical study, immune cells expressing the JAK2 V617F and JAK2 M929I double mutation demonstrated resistance to Jakafi (Ruxolitinib) in culture (PMID: 21926964). 21926964
JAK2 V617F JAK2 M929I hematologic cancer predicted - sensitive Fedratinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing the JAK2 V617F and JAK2 M929I double mutation were sensitive to treatment with Inrebic (fedratinib) in culture, demonstrating growth inhibition (PMID: 21926964). 21926964
JAK2 V617F JAK2 R938L hematologic cancer resistant Fedratinib Preclinical - Cell culture Actionable In a preclinical study, immune cells expressing the JAK2 V617F and JAK2 R938L double mutation demonstrated resistance to Inrebic (fedratinib) in culture (PMID: 21926964). 21926964
JAK2 V617F JAK2 R938L hematologic cancer resistant Lestaurtinib Preclinical Actionable In a preclinical study, immune cells expressing the JAK2 V617F and JAK2 R938L double mutation demonstrated resistance to lestauranib in culture (PMID: 21926964). 21926964
JAK2 V617F JAK2 R938L hematologic cancer resistant AZD1480 Preclinical Actionable In a preclinical study, immune cells expressing the JAK2 V617F and JAK2 R938L double mutation demonstrated resistance to AZD1480 in culture (PMID: 21926964). 21926964
JAK2 V617F JAK2 R938L hematologic cancer resistant Momelotinib Preclinical Actionable In a preclinical study, immune cells expressing the JAK2 V617F and JAK2 R938L double mutation demonstrated resistance to Momelotinib (CYT387) in culture (PMID: 21926964). 21926964
JAK2 V617F JAK2 R938L hematologic cancer resistant Ruxolitinib Preclinical Actionable In a preclinical study, immune cells expressing the JAK2 V617F and JAK2 R938L double mutation demonstrated resistance to Jakafi (Ruxolitinib) in culture (PMID: 21926964). 21926964
JAK2 V617F JAK2 E987D Advanced Solid Tumor resistant Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK2 V617F and E987D demonstrated resistance to Jakafi (Ruxolitinib) treatment in culture (PMID: 26419724). 26419724
JAK2 V617F JAK2 R971G Advanced Solid Tumor resistant Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK2 V617F and R971G demonstrated resistance to Jakafi (Ruxolitinib) in culture (PMID: 26419724). 26419724
JAK2 V617F JAK2 L983F Advanced Solid Tumor resistant Ruxolitinib Preclinical Actionable In a preclinical study, transformed cells expressing JAK2 V617F and L983F demonstrated resistance to Jakafi (Ruxolitinib) treatment in cell culture and in a syngeneic mouse model (PMID: 26419724). 26419724
JAK2 V617F JAK2 Y931C JAK2 S1025C Advanced Solid Tumor resistant Fedratinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK2 V617F, Y931C and S1025C demonstrated resistance to Inrebic (fedratinib) treatment in culture (PMID: 26419724). 26419724
JAK2 V617F JAK2 Y931C JAK2 Y1045W Advanced Solid Tumor resistant Fedratinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK2 V617F, Y931C and Y1045W demonstrated resistance to Inrebic (fedratinib) treatment in culture (PMID: 26419724). 26419724
JAK2 V617F JAK2 Y931C JAK2 F1061W Advanced Solid Tumor resistant Fedratinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK2 V617F, Y931C and F1061W demonstrated resistance to Inrebic (fedratinib) treatment in culture (PMID: 26419724). 26419724
JAK2 V617F JAK2 Y931C JAK2 V1075F Advanced Solid Tumor resistant Fedratinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK2 V617F, Y931C and V1075F demonstrated resistance to Inrebic (fedratinib) treatment in culture (PMID: 26419724). 26419724
FLT3 exon 14 ins JAK2 V617F hematologic cancer resistant Midostaurin Preclinical - Cell culture Actionable In a preclinical study, transformed hematologic cells expressing a FLT3-ITD mutation and JAK2 V617F were resistant to treatment with Rydapt (midostaurin) in culture (PMID: 33149267). 33149267
FLT3 exon 14 ins JAK2 V617F hematologic cancer resistant Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, transformed hematologic cells expressing a FLT3-ITD mutation and JAK2 V617F were resistant to treatment with Jakafi (ruxolitinib) in culture (PMID: 33149267). 33149267
FLT3 exon 14 ins JAK2 V617F hematologic cancer sensitive Midostaurin + Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, the combination of Rydapt (midostaurin) and Jakafi (ruxolitinib) inhibited downstream signaling and cell growth in transformed hematologic cells expressing a FLT3-ITD mutation and JAK2 V617F in culture (PMID: 33149267). 33149267
FLT3 exon 14 ins JAK2 V617F hematologic cancer predicted - sensitive Pacritinib Preclinical - Cell culture Actionable In a preclinical study, Pacritinib (SB1518) treatment decreased cell proliferation and downstream signaling in transformed hematologic cells expressing a FLT3-ITD mutation and JAK2 V617F in culture but may not be capable of fully inhibiting Flt3 and Jak signaling at clinically achievable concentrations (PMID: 33149267). 33149267
FLT3 exon 14 ins JAK2 V617F hematologic cancer resistant Gilteritinib Preclinical - Cell culture Actionable In a preclinical study, transformed hematologic cells expressing a FLT3-ITD mutation and JAK2 V617F were resistant to treatment with Xospata (gilteritinib) in culture (PMID: 33149267). 33149267
FLT3 exon 14 ins JAK2 V617F hematologic cancer sensitive Gilteritinib + Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, the combination of Xospata (gilteritinib) and Jakafi (ruxolitinib) inhibited growth of transformed hematologic cells expressing a FLT3-ITD mutation and JAK2 V617F in culture (PMID: 33149267). 33149267
FLT3 exon 14 ins JAK2 V617F hematologic cancer resistant Tofacitinib Preclinical - Cell culture Actionable In a preclinical study, transformed hematologic cells expressing a FLT3-ITD mutation and JAK2 V617F were resistant to treatment with Xeljanz (tofacitinib) in culture (PMID: 33149267). 33149267
FLT3 exon 14 ins JAK2 V617F hematologic cancer decreased response Midostaurin + Tofacitinib Preclinical - Cell culture Actionable In a preclinical study, transformed hematologic cells expressing a FLT3-ITD mutation and JAK2 V617F demonstrated a decreased response to treatment with the combination of Rydapt (midostaurin) and Xeljanz (tofacitinib) compared to cells expressing a FLT3-ITD mutation and activating mutations of JAK1 or JAK3 in culture (PMID: 33149267). 33149267
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
JAK2 mutant essential thrombocythemia not applicable N/A Guideline Diagnostic JAK2 mutations aid in the diagnosis of essential thrombocythemia (NCCN.org). detail...
JAK2 mutant myelofibrosis not applicable N/A Guideline Diagnostic JAK2 mutations aid in the diagnosis of primary myelofibrosis (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...
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...