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

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).
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https://hal-amu.archives-ouvertes.fr/hal-03623779
Contributor : François Bertucci Connect in order to contact the contributor
Submitted on : Tuesday, March 29, 2022 - 7:25:42 PM
Last modification on : Friday, April 1, 2022 - 12:02:14 PM

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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 and Cancer, Wiley, 2012, 51 (8), pp.743-755. ⟨10.1002/gcc.21960⟩. ⟨hal-03623779⟩

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