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

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Brecqueville, Mandy | Rey, Jérôme | Bertucci, François | Coppin, Emilie | Finetti, Pascal | Carbuccia, Nadine | Cervera, Nathalie | Gelsi-Boyer, Véronique | Arnoulet, Christine | Gisserot, Olivier | Verrot, Denis | Slama, Borhane | Vey, Norbert | Mozziconacci, Marie-Joelle | Birnbaum, Daniel | Murati, Anne

Edité par CCSD ; Wiley -

International audience. 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).

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