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

作者：Jaroslav Jelı́nek, Yasuhiro Oki, Vazganush Gharibyan, Carlos E. Bueso‐Ramos, Josef T. Prchal, Srđan Verstovšek, Miloslav Beran, Elihu H. Estey, Hagop M. Kantarjian, Jean‐Pierre J. Issa · 发表于：Blood · 年份：2005 · DOI：10.1182/blood-2005-05-1800 · 被引用次数：370 · 研究领域：Myeloproliferative Neoplasms: Diagnosis and Treatment、Eosinophilic Disorders and Syndromes、Chronic Myeloid Leukemia Treatments

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