U2AF1 mutations in Chinese patients with acute myeloid leukemia and myelodysplastic syndrome

Jun Qian; Dong-ming Yao; Jiang Lin; Wei Qian; Cui-zhu Wang; Hai-yan Chai; Jing Yang; Yun Li; Zhao-qun Deng; Ji-chun Ma; Xing-xing Chen

doi:10.1371/journal.pone.0045760

U2AF1 mutations in Chinese patients with acute myeloid leukemia and myelodysplastic syndrome

PLoS One. 2012;7(9):e45760. doi: 10.1371/journal.pone.0045760. Epub 2012 Sep 19.

Authors

Jun Qian¹, Dong-ming Yao, Jiang Lin, Wei Qian, Cui-zhu Wang, Hai-yan Chai, Jing Yang, Yun Li, Zhao-qun Deng, Ji-chun Ma, Xing-xing Chen

Affiliation

¹ Department of Haematology, Affiliated People's Hospital of Jiangsu University, Zhenjiang, Jiangsu, People's Republic of China.

Abstract

Somatic mutations of U2AF1 gene have recently been identified in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). In this study, we analyzed the frequency and clinical impact of U2AF1 mutations in a cohort of 452 Chinese patients with myeloid neoplasms. Mutations in U2AF1 were found in 2.5% (7/275) of AML and 6.3% (6/96) of MDS patients, but in none of 81 CML. All mutations were heterozygous missense mutations affecting codon S34 or Q157. There was no significant association of U2AF1 mutation with blood parameters, FAB subtypes, karyotypes and other gene mutations in AML. The overall survival (OS) of AML patients with U2AF1 mutation (median 3 months) was shorter than those without mutation (median 7 months) (P = 0.035). No difference in the OS was observed between MDS patients with and without U2AF1 mutations. Our data show that U2AF1 mutation is a recurrent event at a low frequency in AML and MDS.

Publication types

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

MeSH terms

Adult
Aged
Aged, 80 and over
China
DNA Mutational Analysis
Female
Genetic Association Studies
Heterozygote
Humans
Leukemia, Myeloid, Acute / diagnosis
Leukemia, Myeloid, Acute / genetics*
Leukemia, Myeloid, Acute / mortality
Male
Middle Aged
Mutation, Missense*
Myelodysplastic Syndromes / diagnosis
Myelodysplastic Syndromes / genetics*
Myelodysplastic Syndromes / mortality
Nuclear Proteins / genetics*
Prognosis
Ribonucleoproteins / genetics*
Splicing Factor U2AF
Statistics, Nonparametric
Young Adult

Substances

Nuclear Proteins
Ribonucleoproteins
Splicing Factor U2AF
U2AF1 protein, human

Grants and funding

This study was supported by Science and Technology Special Project in Clinical Medicine of Jiangsu Province (BL2012056), National Natural Science foundation of China (81172592), 333 Project of Jiangsu Province (BRA2011085) and Natural Science foundation of Jiangsu Province (BK2009206). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.