Gene

JAK2

Janus kinase 2

Explore in graph →CI-GENE-00006502HGNC:6192 ENSG00000096968 NCBI 3717 CIViC Cancer geneApproved

Curated evidence

Clinical evidence (55)

CIViC items involving this gene, grouped by molecular profile and therapy, with native levels and directions. 50 items per page.

civicCuratedShowing 1–50 of 55 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
JAK2 Fusion2
(diagnostic)	B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like	Diagnostic	C	Supports Positive	3	accepted	EID7671

Cohorts

Alteration frequency by cohort (110)

Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.

cbioportalObserved110 cohort rows (showing 50, sorted by frequency) · frequency = affected / profiled, as published by each cohort; cohorts are not pooled. Hover a row badge for its release.

Cohort	Mapped cancer	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Rank in cohort	Source
Myeloproliferative Neoplasms (CIMR, NEJM 2013) mpn_cimr_2013	Myeloproliferative Neoplasm	Ssm

Literature

Linked publications (16)

25 per page, newest first.

pubmedPublishedShowing 1–16 of 16 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia.
· Blood · 2016 · PMID 27069254 · validated civic_curation pubmed
Targetable kinase-activating lesions in Ph-like acute lymphoblastic leukemia.
· N Engl J Med · 2014 · PMID 25207766 · validated civic_curation pubmed
Tyrosine kinase fusion genes in pediatric BCR-ABL1-like acute lymphoblastic leukemia.
· Oncotarget · 2017 · PMID 27894077 · validated civic_curation pubmed
The JAK2V617F activating mutation occurs in chronic myelomonocytic leukemia and acute myeloid leukemia, but not in acute lymphoblastic leukemia or chronic lymphocytic leukemia.
· Blood · 2005 · PMID 16081687 · validated civic_curation

JAK2 V617F6
(diagnostic)	Lymphoid Leukemia	Diagnostic	B	Supports Negative	4	accepted	EID1 JAK2 V617F is not associated with lymphoid leukemia (B-lineage ALL, T-ALL or CLL). PMID 16081687 · Levine et al., 2005 · Open in CIViC	civic
〃	Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS	Diagnostic	B	Supports Positive	4	accepted	EID5 JAK2 V617F is associated with myeloid malignanices (AML, MDS, CMML/atypical CML). PMID 16081687 · Levine et al., 2005 · Open in CIViC	civic
〃	Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS	Diagnostic	B	Supports Positive	4	accepted	EID6 JAK2 V617F is associated with myeloid neoplasms (AML, MDS, CMML/aCML). PMID 16081687 · Levine et al., 2005 · Open in CIViC	civic
〃	Malignant Bone Marrow NeoplasmALIAS	Diagnostic	B	Supports Positive	4	accepted	EID7 The SNP rs10974944 in the Jak2 locus is associated with increased predisposition for JAK2 V617F mutation and its associated cancer. PMID 19287384 · Kilpivaara et al., 2009 · Open in CIViC	civic
Fedratinib	Polycythemia Vera	Predictive	D	Supports Sensitivity Response	3	accepted	EID20 TG101348 effectively inhibits STAT5 signaling in JAK2 V617F cells. PMID 18394554 · Wernig et al., 2008 · Open in CIViC	civic
Peginterferon Alfa-2b	Polycythemia Vera	Predictive	B	Supports Sensitivity Response	4	accepted	EID19 In patients with JAK2 V617F, the use of pegylated IFN-alpha-2a leads to reduction in the percentage of cells harboring JAK2 V617F. PMID 16709929 · Kiladjian et al., 2006 · Open in CIViC	civic

JAK2 Fusion2
(diagnostic)	Hematopoietic and Lymphoid Cell NeoplasmALIAS	Diagnostic	A	Supports Positive	5	accepted	EID1436 The 2016 World Health Organization guidelines for the classification of myeloid malignancies and acute leukemia describes a new class of disease defined by myeloid or lymphoid neoplasms associated wit… (full text at CIViC) PMID 27069254 · Arber et al., 2016 · Open in CIViC	civic
〃	B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like	Diagnostic	C	Supports Positive	3	accepted	EID7704 The PCM1-JAK2 fusion is typically associated with 'myeloid/lymphoid neoplasms with eosinophilia and gene rearrangements', which is a specific disease entity according to WHO classification. However, i… (full text at CIViC) PMID 28408464 · Reshmi et al., 2017 · Open in CIViC	civic

JAK2 Fusion3
(diagnostic)	B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like	Diagnostic	C	Supports Positive	2	accepted	EID7997 To identify potentially druggable kinase fusions, this study of 278 B-ALL patients (all BCR-ABL1 negative), 34 (12.2%) harbored an IKZF1 deletion as determined by MLPA. Sufficient RNA from 16/34 of th… (full text at CIViC) PMID 26404892 · Yano et al., 2015 · Open in CIViC	civic
〃	B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like	Diagnostic	C	Supports Positive	2	accepted	EID8104 In this study involving 373 high risk pediatric B-ALL cases with no recurrent fusions, 29 were kinase-fusion positive as determined by mRNA-seq or mRT-PCR and validated by RT-PCR and Sanger. One case,… (full text at CIViC) PMID 27176795 · Imamura et al., 2016 · Open in CIViC	civic
〃	Childhood B-cell Acute Lymphoblastic LeukemiaUNRESOLVED	Diagnostic	E	Supports Positive	3	rejected	EID7995 In B-lymphoblastic leukemia/lymphoma (B-ALL), the presence of this fusion is associated with so-called BCR/ABL1 like (Ph-like) subtype of the disease. The OFD1-JAK2 fusion is rare; in this study invol… (full text at CIViC) PMID 26404892 · Yano et al., 2015 · Open in CIViC	civic

JAK2 Fusion6
(diagnostic)	B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like	Diagnostic	B	Supports Positive	3	accepted	EID7699 In the study involving 1725 B-ALL patients, 264 were identified by microarray-based algorithm to have a Ph-like expression signature. Next generation sequencing (RNAseq, WGS, and/or WES) performed on … (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC	civic
〃	B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like	Diagnostic	C	Supports Positive	3	accepted	EID7700 In this study which included 1389 cases of high-risk pediatric B-ALL, 284 were identified by TaqMan Low Density Array to have a Ph-like gene expression signature. RT-PCR or RNAseq performed on CRLF2 n… (full text at CIViC) PMID 28408464 · Reshmi et al., 2017 · Open in CIViC	civic
〃	B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like	Diagnostic	C	Supports Positive	3	submitted	EID7701 This study evaluated the prevalence and outcome of Ph-like ALL subtype in patients wiiht standard-risk (SR) disease. A cohort of 1023 SR cases from the Children's Oncology Group AALL0331 clinical tria… (full text at CIViC) PMID 29997224 · Roberts et al., 2018 · Open in CIViC	civic
〃	B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like	Diagnostic	C	Supports Positive	3	submitted	EID8098 In B-lymphoblastic leukemia/lymphoma (B-ALL), the presence of this fusion is associated with so-called BCR/ABL1 like (Ph-like) subtype of the disease. In this study involving 798 B-ALL patients of whi… (full text at CIViC) PMID 27870571 · Roberts et al., 2017 · Open in CIViC	civic
〃	B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like	Diagnostic	C	Supports Positive	3	accepted	EID8105 In B-lymphoblastic leukemia/lymphoma (B-ALL), the presence of this fusion is associated with so-called BCR/ABL1 like (Ph-like) subtype of the disease. In this study involving 373 high risk pediatric B… (full text at CIViC) PMID 27176795 · Imamura et al., 2016 · Open in CIViC	civic
〃	B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like	Diagnostic	C	Supports Positive	1	submitted	EID11623 B-ALL cases with high-risk clinical features or suggestion of a kinase rearrangement were subjected to low density gene expression array to determine Ph-like status. 1 patient (5.3 years old) with a P… (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC	civic

JAK2 Fusion5
(diagnostic)	B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like	Diagnostic	C	Supports Positive	4	accepted	EID8103 In this study which included 1389 cases of high-risk pediatric B-ALL, 284 were identified by TaqMan Low Density Array to have a Ph-like gene expression signature. RT-PCR or RNAseq performed on CRLF2 n… (full text at CIViC) PMID 28408464 · Reshmi et al., 2017 · Open in CIViC	civic
〃	B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like	Diagnostic	C	Supports Positive	3	accepted	EID8100 In B-lymphoblastic leukemia/lymphoma (B-ALL), the presence of this fusion is associated with so-called BCR/ABL1 like (Ph-like) subtype of the disease.The SSBP2-JAK2 fusion is rare; In this study invol… (full text at CIViC) PMID 27870571 · Roberts et al., 2017 · Open in CIViC	civic
(prognostic)	B Lymphoblastic Leukemia/LymphomaCURATED_BROADER	Prognostic	C	Supports Poor Outcome	1	submitted	EID7209 Case report of a 39 yo male with pre-B ALL and a single translocation t(5;9), which created an SSBP2-JAK2 fusion. The patient entered remission after standard induction therapy, but suffered rapid sys… (full text at CIViC) PMID 18618714 · Poitras et al., 2008 · Open in CIViC	civic
(diagnostic)	B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like	Diagnostic	C	Supports Positive	1	submitted	EID11624 B-ALL cases with high-risk clinical features or suggestion of a kinase rearrangement were subjected to low density gene expression array to determine Ph-like status. 1 patient (14 years old) with an … (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC	civic
Ruxolitinib	B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like	Predictive	C	Supports Sensitivity Response	3	accepted	EID7257 The SSBP2-JAK2 fusion was identified in a 14 yo male with Ph-like B-ALL, a t(5;9)(q12;p1?3), and a WBC of 160,000. Following 4-drug induction therapy the patient had an MRD of 5.5%, indicating a poor … (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC	civic

JAK2 Fusion2
(diagnostic)	B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like	Diagnostic	C	Supports Positive	4	submitted	EID7703 In B-lymphoblastic leukemia/lymphoma (B-ALL), the presence of this fusion is associated with so-called BCR/ABL1 like (Ph-like) subtype of the disease. The TERF2-JAK2 fusionis rare. This study was cond… (full text at CIViC) PMID 27894077 · Boer et al., 2017 · Open in CIViC	civic
〃	B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like	Diagnostic	C	Supports Positive	3	accepted	EID7702 In the study involving 1725 B-ALL patients, 264 were identified by microarray-based algorithm to have a Ph-like expression signature. Next generation sequencing (RNAseq, WGS, and/or WES) performed on … (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC	civic