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

Mandy Brecqueville (1, 2) , Jérôme Rey (2, 3) , François Bertucci (1, 2) , Emilie Coppin (1, 2) , Pascal Finetti (1, 2) , Nadine Carbuccia (1, 2) , Nathalie Cervera (1, 2) , Véronique Gelsi-Boyer (1, 2) , Christine Arnoulet (2) , Olivier Gisserot (4) , Denis Verrot (5) , Borhane Slama (6) , Norbert Vey (2, 3) , Marie-Joelle Mozziconacci (1, 2) , Daniel Birnbaum (1, 2) , Anne Murati (2, 1)

1 CRCM - Centre de Recherche en Cancérologie de Marseille
2 IPC - Institut Paoli-Calmettes
3 AMU - Aix Marseille Université
4 HIA - Hopital d'instruction des armées Sainte-Anne [Toulon]
5 Hôpital Saint-Joseph [Marseille]
6 Centre Hospitalier Henri Duffaut (Avignon)

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).

Domaines: Cancer

Mandy Brecqueville, Jérôme Rey, François Bertucci, Emilie Coppin, Pascal Finetti, et al.. Mutation analysis of ASXL1, CBL, DNMT3A, IDH1, IDH2, JAK2, MPL, NF1, SF3B1, SUZ12, and TET2 in myeloproliferative neoplasms. Genes, Chromosomes & Cancer, 2012, 51 (8), pp.743-755. ⟨10.1002/gcc.21960⟩. ⟨hal-03623779⟩