Janus kinase 2 (JAK2) encodes for a protein tyrosine kinase involved in cytokine receptor signaling. Mutations
in JAK2 have been identified in ALL and other hematologic malignancies.
Preclinical models have been used to test efficacy of mTOR and JAK inhibitors in
CRLF2-rearranged and JAK2-mutated high-risk precursor B-cell ALL (Maude
et al. 2011).
Suggested Citation: Brown, V., S. Borinstein, D. Friedman. 2018. JAK2. My
Cancer Genome https://www.padiracinnovation.org/content/disease/acute-lymphoblastic-leukemia/jak2/?tab=0
(Updated April 3).
Last Updated: April 3, 2018
JAK2 in Acute Lymphoblastic Leukemia
Suggested Citation: Brown, V., S. Borinstein, D. Friedman. 2014. JAK2 in Acute
Lymphoblastic Leukemia. My Cancer Genome https://www.padiracinnovation.org/content/disease/acute-lymphoblastic-leukemia/jak2/
(Updated August 8).
Last Updated: August 8, 2014
JAK2 c.2049A>C (R683S) Mutation in Acute Lymphoblastic Leukemia
||Exon 16 (coding exon 14), pseudokinase domain (Ensembl; Mullighan et
|Frequency of JAK2 mutation in
B-cell precursor ALL
||3-9% (Chen et
al 2012; COSMIC)
|Frequency of R683S mutation among
JAK2-mutated B-cell precursor ALL
|Implications for Targeted Therapeutics
|Response to PI3K/mTOR inhibitors
||Unknown at this timea
|Response to JAK inhibitors
||Unknown at this timeb
The R683S mutation results in an amino acid substitution at position 683 in
JAK2, from an arginine (R) to a serine (S).
a In preclinical in vivo models, the mTOR inhibitor sirolimus inhibitied
PI3K/mTOR signaling (Maude et al. 2011; Tasian et
b In preclinical in vivo models, the JAK inhibitor ruxolitinib
(INCB018424) inhibited JAK/STAT signaling and reduced overall disease burden (Maude
et al. 2011; Tasian et al. 2012).
Suggested Citation: Brown, V., S. Borinstein, D. Friedman. 2017. JAK2 c.2049A>C
(R683S) Mutation in Acute Lymphoblastic
Leukemia. My Cancer Genome https://www.padiracinnovation.org/content/disease/acute-lymphoblastic-leukemia/jak2/202/
(Updated April 5).
Last Updated: April 5, 2017
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