title: EZH2 mutations are related to low blast percentage in bone marrow and -7/del(7q) in de novo acute myeloid leukemia.
abstract: The purpose of the present work was to determine the incidence and clinical implications of somatic EZH2 mutations in 714 patients with de novo acute myelogenous leukemia by sequencing the entire coding region. EZH2 mutations were identified in 13/714 (1.8%) of AML patients were found to be more common in males (P = 0.033). The presence of EZH2 mutations was significantly associated with lower blast percentage (21-30%) in bone marrow (P<0.0001) and -7/del(7q) (P = 0.025). There were no differences in the incidence of mutation in 13 genes, ASXL1, CBL, c-KIT, DNMT3A, FLT3, IDH1, IDH2, MLL, NPM1, NRAS, RUNX1, TET2, and WT1, between patients with and without EZH2 mutations. No difference in complete remission, event-free survival, or overall survival was observed between patients with and without EZH2 mutation (P>0.05). Overall, these results showed EZH2 mutation in de novo acute myeloid leukemia as a recurrent genetic abnormality to be associated with lower blast percentage in BM and -7/del(7q).
authors.affiliation: Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, The First Affiliated Hospital of Soochow University, Suzhou, People's Republic of China.
authors.forename: Xiuli
authors.initials: X
authors.lastname: Wang
authors.forename: Haiping
authors.initials: H
authors.lastname: Dai
authors.forename: Qian
authors.initials: Q
authors.lastname: Wang
authors.forename: Qinrong
authors.initials: Q
authors.lastname: Wang
authors.forename: Yang
authors.initials: Y
authors.lastname: Xu
authors.forename: Ying
authors.initials: Y
authors.lastname: Wang
authors.forename: Aining
authors.initials: A
authors.lastname: Sun
authors.forename: Jia
authors.initials: J
authors.lastname: Ruan
authors.forename: Suning
authors.initials: S
authors.lastname: Chen
authors.forename: Depei
authors.initials: D
authors.lastname: Wu
mesh_terms: D000328:Adult; D000368:Aged; D001752:Blast Crisis / Q000235:genetics*; D001853:Bone Marrow / Q000473:pathology*; D002648:Child; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D000071221:Enhancer of Zeste Homolog 2 Protein; D005260:Female; D006801:Humans; D053208:Kaplan-Meier Estimate; D015470:Leukemia, Myeloid, Acute / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D000090243:Nucleophosmin; D063151:Polycomb Repressive Complex 2 / Q000235:genetics*; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: C000716967:NPM1 protein, human; D000090243:Nucleophosmin; C498409:EZH2 protein, human; D000071221:Enhancer of Zeste Homolog 2 Protein; D063151:Polycomb Repressive Complex 2