期刊
GENES CHROMOSOMES & CANCER
卷 51, 期 8, 页码 743-755出版社
WILEY
DOI: 10.1002/gcc.21960
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资金
- Association pour la Recherche sur le Cancer [AM 4929, 2008, DB 4992, 2010]
- Association Laurette Fugain [MJM 2010]
- Inserm, Institut Paoli-Calmettes
Since the discovery of the JAK2V617F tyrosine kinase-activating mutation several genes have been found mutated in nonchronic myeloid leukemia (CML) myeloproliferative neoplasms (MPNs), which mainly comprise three subtypes of classic MPNs; polycythemia vera (PV), essential thrombocythemia (ET), and myelofibrosis (MF). We searched for mutations in ASXL1, CBL, DNMT3A, IDH1, IDH2, JAK2, MPL, NF1, SF3B1, SUZ12, and TET2 genes in 149 non-CML MPNs, including 127 classic MPNs cases. JAK2 was mutated in 100% PV, 66% ET and 68% MF. We found a high incidence of ASXL1 mutation in MF patients (20%) and a low incidence in PV (7%) and ET (4%) patients. Mutations in the other genes were rare (CBL, DNMT3A, IDH2, MPL, SF3B1, SUZ12, NF1) or absent (IDH1). (c) 2012 Wiley Periodicals, Inc.
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