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Mutation analysis of ASXL1, CBL, DNMT3A, IDH1, IDH2, JAK2, MPL, NF1, SF3B1, SUZ12, and TET2 in myeloproliferative neoplasms
Author(s) -
Brecqueville Mandy,
Rey Jérôme,
Bertucci François,
Coppin Emilie,
Finetti Pascal,
Carbuccia Nadine,
Cervera Nathalie,
GelsiBoyer Véronique,
Arnoulet Christine,
Gisserot Olivier,
Verrot Denis,
Slama Borhane,
Vey Norbert,
Mozziconacci MarieJoelle,
Birnbaum Daniel,
Murati Anne
Publication year - 2012
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.21960
Subject(s) - polycythemia vera , essential thrombocythemia , idh2 , myelofibrosis , cancer research , myeloid leukemia , idh1 , mutation , myeloid , myeloproliferative neoplasm , medicine , biology , gene , genetics , bone marrow
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.