Mutation analysis of ASXL1, CBL, DNMT3A, IDH1, IDH2, JAK2, MPL, NF1, SF3B1, SUZ12, and TET2 in myeloproliferative neoplasms

M Brecqueville, J Rey, F Bertucci… - Genes …, 2012 - Wiley Online Library
M Brecqueville, J Rey, F Bertucci, E Coppin, P Finetti, N Carbuccia, N Cervera…
Genes, Chromosomes and Cancer, 2012Wiley Online Library
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 …
Abstract
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). © 2012 Wiley Periodicals, Inc.
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