TY - JOUR
T1 - JAK2 mutation 1849G>T is rare in acute leukemias but can be found in CMML, Philadelphia chromosome-negative CML, and megakaryocytic leukemia
AU - Jelinek, Jaroslav
AU - Oki, Yasuhiro
AU - Gharibyan, Vazganush
AU - Bueso-Ramos, Carlos
AU - Prchal, Josef T.
AU - Verstovsek, Srdan
AU - Beran, Miloslav
AU - Estey, Elihu
AU - Kantarjian, Hagop M.
AU - Issa, Jean Pierre J.
PY - 2005/11/15
Y1 - 2005/11/15
N2 - 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.
AB - 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.
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U2 - 10.1182/blood-2005-05-1800
DO - 10.1182/blood-2005-05-1800
M3 - Article
C2 - 16037387
AN - SCOPUS:25844447519
SN - 0006-4971
VL - 106
SP - 3370
EP - 3373
JO - Blood
JF - Blood
IS - 10
ER -