JAK2, Janus kinase 2, 3717

N. diseases: 644; N. variants: 54
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE Cases with t(9p24;v)/JAK2 are extremely rare; while such cases with a MPN presentation may resemble t(8;9)(p22;p24.1)/PCM1-JAK2, B-ALL cases presenting de novo B-ALL might belong to Ph-like B-ALL. 30401948 2019
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 Biomarker disease BEFREE JAK2 is dispensable for maintenance of JAK2 mutant B-cell acute lymphoblastic leukemias. 29907650 2018
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 Biomarker disease BEFREE Mutations in TP53 and JAK2 are independent prognostic biomarkers in B-cell precursor acute lymphoblastic leukaemia. 28557976 2017
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE Although "paired box 5" (PAX5)-related fusion genes are well documented in childhood B-cell precursor acute lymphoblastic leukemia (ALL), these types of fusion with the exception of PAX5-JAK2 are rarely seen in patients with gene expression profiles similar to those of BCR-ABL1 (Philadelphia)-positive ALL (Ph-like ALL). 27870151 2017
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE Integration of ruxolitinib into dose-intensified therapy targeted against a novel JAK2 F694L mutation in B-precursor acute lymphoblastic leukemia. 27860260 2017
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 Biomarker disease BEFREE BBT594 and CHZ868, Type-II inhibitors of JAK2, illustrate satisfactory efficacy in preclinical MPNs and acute lymphoblastic leukemia (ALL) models. 28831147 2017
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 AlteredExpression disease BEFREE The role of the Janus-faced transcription factor PAX5-JAK2 in acute lymphoblastic leukemia. 25515960 2015
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 AlteredExpression disease BEFREE Having both a tyrosine kinase-activating rearrangement and genomic lesions affecting lymphoid transcription factors suggested that the leukemia was of the Philadelphia chromosome (Ph)/BCR-ABL1-like ALL subtype and that JAK2 inhibitors might be able to overcome this aggressive ALL with SPAG9-JAK2. 25951811 2015
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations. 25105841 2014
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 Biomarker disease BEFREE Activating mutations that target JAK2, as well as JAK1, or CRLF2 and IL7RA, two cytokine receptors with which the JAKs associate in lymphoid cells, have now been identified in a subset of pediatric patients diagnosed with acute lymphoblastic leukemia (ALL), many of whom have a poor prognosis. 23340138 2013
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 Biomarker disease BEFREE Chromosomal translocations resulting in alternative fusions of the human TEL (ETV6) and JAK2 genes have been observed in cases of acute lymphoblastic leukemia and chronic myelogenous leukemia, but a full understanding of their role in disease etiology has remained elusive. 22733019 2012
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 Biomarker disease BEFREE We report on a 67-year-old man with the diagnosis of MDS, subtype refractory anemia with ring sideroblasts (RARS), karyotype 20q- , JAK-2 negative and grade III fibrosis on the bone marrow biopsy, who evolved into ALL 33 months after the diagnosis of MDS. 22760793 2012
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 Biomarker disease BEFREE We studied the frequency and prognostic value of deletions in B-cell development genes and aberrations of janus kinase 2 (JAK2) and cytokine receptor-like factor 2 (CRLF2) using array-comparative genomic hybridization, and multiplex ligation-dependent probe amplification in a population-based cohort of 34 Dutch Childhood Oncology Group DS ALL samples. 22441210 2012
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 Biomarker disease BEFREE ETV6-JAK2 was found in both B-ALL and T-ALL patients. 22373549 2012
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 AlteredExpression disease BEFREE Down syndrome acute lymphoblastic leukemia, a highly heterogeneous disease in which aberrant expression of CRLF2 is associated with mutated JAK2: a report from the International BFM Study Group. 19965641 2010
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a single case of acute lymphoblastic leukemia (n = 96), and none in chronic myeloid leukemias (n = 81). 20538800 2010
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 Biomarker disease BEFREE CRLF2 and JAK2 in B-progenitor acute lymphoblastic leukemia: a novel association in oncogenesis. 20807819 2010
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 Biomarker disease BEFREE This case brings the total number of JAK2 rearranged lymphoblastic leukemia cases in the literature to seven. 20594592 2010
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE We describe two structural hotspots in the pseudokinase domain of Jak2 that seem to be associated either to myeloproliferation or to lymphoblastic leukaemia, pointing at the involvement of distinct signalling complexes in these disease settings. 20132407 2010
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE Specific JAK2 mutation (JAK2R683) and multiple gene deletions in Down syndrome acute lymphoblastic leukemia. 18927438 2009
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE JAK2 activating mutations occurred in 10/53 DS ALL cases (18.9%). 19120350 2009
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE Novel SSBP2-JAK2 fusion gene resulting from a t(5;9)(q14.1;p24.1) in pre-B acute lymphocytic leukemia. 18618714 2008
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE Somatically acquired JAK2 mutations were identified in 16 (18%) patients with Down's syndrome-associated acute lymphoblastic leukaemia. 18805579 2008
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 Biomarker disease BEFREE In intracellular NOTCH1 (ICN1)- and TEL-JAK2-induced T-cell lymphoblastic leukemia, two mouse models relevant to human malignancies, in vivo inhibition of calcineurin activity by CsA or FK506 induced apoptosis of leukemic cells and rapid tumor clearance, and substantially prolonged mouse survival. 17515895 2007
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE Novel activating JAK2 mutation in a patient with Down syndrome and B-cell precursor acute lymphoblastic leukemia. 17068151 2007