EZH2 mutations are related to low blast percentage in bone marrow and -7/del(7q) in de novo acute myeloid leukemia

Xiuli Wang; Haiping Dai; Qian Wang; Qinrong Wang; Yang Xu; Ying Wang; Aining Sun; Jia Ruan; Suning Chen; Depei Wu

doi:10.1371/journal.pone.0061341

EZH2 mutations are related to low blast percentage in bone marrow and -7/del(7q) in de novo acute myeloid leukemia

PLoS One. 2013 Apr 17;8(4):e61341. doi: 10.1371/journal.pone.0061341. Print 2013.

Authors

Xiuli Wang¹, Haiping Dai, Qian Wang, Qinrong Wang, Yang Xu, Ying Wang, Aining Sun, Jia Ruan, Suning Chen, Depei Wu

Affiliation

¹ 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.

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).

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Aged
Blast Crisis / genetics*
Bone Marrow / pathology*
Child
Chromosome Deletion*
Chromosomes, Human, Pair 7 / genetics*
Enhancer of Zeste Homolog 2 Protein
Female
Humans
Kaplan-Meier Estimate
Leukemia, Myeloid, Acute / drug therapy
Leukemia, Myeloid, Acute / genetics*
Leukemia, Myeloid, Acute / pathology
Male
Middle Aged
Mutation / genetics*
Nucleophosmin
Polycomb Repressive Complex 2 / genetics*
Treatment Outcome
Young Adult

Substances

NPM1 protein, human
Nucleophosmin
EZH2 protein, human
Enhancer of Zeste Homolog 2 Protein
Polycomb Repressive Complex 2

Grants and funding

This work was supported in part by grants from National Key Scientific Projects of China (2011CB933501),http: //www.nsfc.gov.cn/Portal0/default152.htm; the Priority Academic Program Development of Jiangsu Higher Education Institutions, Jiangsu Province’s Key Provincial Talents Program, the National Natural Science Foundation of China (81070416), http: //www.ec.js.edu.cn/; Jiangsu Province Natural Science Foundation (BK2010204); Jiangsu Province Natural Science Fund for Distinguished Young Scholars; and Foundation of Jiangsu Province Health Department (H200915), http: //www.most.gov.cn/tztg/index.htm. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.