Interpretation 282
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Primary Sites
Tumor Types
Interpretation
Mutations at codon R683 of JAK2, have been previously described in B-ALL (especially Down Syndrome associated B-ALL) and represent a mutational "hotspot"; Some variants at this codon (R683) are known to be activating mutations. Cases of B-ALL with JAK2 mutations tend to also show rearrangement/overexpression of CRLF2; these are potentially targetable pathway alterations. Such cases tend to have a BCR/ABL-like transcriptional signature.
Citations
- Bhagwat N, et al. Sensitivity and resistance of JAK2 inhibitors to myeloproliferative neoplasms. Int J Hematol 2013;97(6):695-702
- Vainchenker W, et al. JAK/STAT signaling in hematological malignancies. Oncogene 2013;32(21):2601-13
- Scott LM The JAK2 exon 12 mutations: a comprehensive review. Am J Hematol 2011;86(8):668-76
- Kearney L, et al. Specific JAK2 mutation (JAK2R683) and multiple gene deletions in Down syndrome acute lymphoblastic leukemia. Blood 2009;113(3):646-8
- Yoda A, et al. Functional screening identifies CRLF2 in precursor B-cell acute lymphoblastic leukemia. Proc Natl Acad Sci U S A 2010;107(1):252-7
- National Comprehensive Cancer Network. Clinical Practice Guidelines in Oncology. Acute Lymphoblastic Leukemia (Version 1.2018).
Last updated: 2018-11-12 20:41:32 UTC