JAK2 mutation 1849G >T is rare in acute leukemias but can be found in CMML, Philadelphia-chromosome negative CML and megakaryocytic leukemia.

Posted by rob on July 23, 2005 under Uncategorized | Be the First to Comment

Jelinek J, Oki Y, Gharibyan V, Bueso-Ramos C, Prchal JT, Verstovsek S, Beran M, Estey E, Kantarjian HM, Issa JP

Blood. 2005 Jul 21;

An activating 1849G>T mutation of JAK2 tyrosine kinase was recently described in chronic myeloproliferative disorders (MPD). Its role in other hematological neoplasms is unclear. We developed a quantitative pyrosequencing assay and analyzed 374 samples of hematological neoplasms. The mutation was frequent in polycythemia vera (PV) (86%) and myelofibrosis (95%) but less prevalent in acute myeloid leukemia (AML) with an antecedent PV or myelofibrosis (5/14 patients or 36%). JAK2 mutation was also detected in 3/16 (19%) patients with Philadelphia-chromosome (Ph)-negative chronic myelogenous leukemia (CML), 2/11 (18%) patients with megakaryocytic AML, 7/52 (13%) patients with chronic myelomonocytic leukemia, and in 1/68 (1%) patients with myelodysplastic syndromes. No mutation was found in Ph-positive CML (99 patients), AML M0-M6 (28 patients) and acute lymphoblastic leukemia (20 patients). We conclude that JAK2 1849G>T mutation is common in Ph-negative MPD but not critical for transformation to the acute phase of these diseases, and generally rare in aggressive leukemias.

JAK2 mutation 1849G >T is rare in acute leukemias but can be found in CMML, Philadelphia-chromosome negative CML and megakaryocytic leukemia.