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The JAK2V617F activating mutation occurs in chronic myelomonocytic leukemia and acute myeloid leukemia, but not in acute lymphoblastic leukemia or chronic lymphocytic leukemia.

Levine RL, Loriaux M, Huntly BJ, Loh M, Beran M, Stoffregen E, Berger R, Clark JJ, Willis SG, Nguyen K, Flores N, Estey E, Gattermann N, Armstrong S, Look TA, Griffin JD, Bernard OA, Gilliland DG, Druker BJ, Deininger MW

Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA; Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA.

Activating mutations in tyrosine kinases have been identified in hematopoietic and non-hematopoietic malignancies. Recently we and others identified a single recurrent somatic activating mutation (JAK2V617F) in the JAK2 tyrosine kinase in the myeloproliferative disorders (MPD) polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. We used direct sequence analysis to determine if the JAK2V617F mutation was present in acute myeloid leukemia (AML), chronic myelomonocytic leukemia (CMML)/atypical chronic myelogenous leukemia (aCML), myelodysplastic syndrome (MDS), B-lineage acute lymphoblastic leukemia (ALL), T-cell ALL, and chronic lymphocytic leukemia (CLL). Analysis of 222 patients with AML identified JAK2V617F mutations in 4 patients with AML, 3 of which had a preceding MPD. JAK2V617F mutations were identified in 9/116 (7.8%) CMML/atypical CML samples, and in 2/48 (4.2%) MDS samples. We did not identify the JAK2V617F disease allele in B-lineage ALL (n=83), T-cell ALL (n=93), or CLL (n=45). These data indicate that the JAK2V617F allele is present in acute and chronic myeloid malignancies but not in lymphoid malignancies.

Published 5 August 2005 in Blood.
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