title: U2AF1 mutations in Chinese patients with acute myeloid leukemia and myelodysplastic syndrome.
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.
authors.affiliation: Department of Haematology, Affiliated People's Hospital of Jiangsu University, Zhenjiang, Jiangsu, People's Republic of China.
authors.forename: Jun
authors.initials: J
authors.lastname: Qian
authors.forename: Dong-ming
authors.initials: DM
authors.lastname: Yao
authors.forename: Jiang
authors.initials: J
authors.lastname: Lin
authors.forename: Wei
authors.initials: W
authors.lastname: Qian
authors.forename: Cui-zhu
authors.initials: CZ
authors.lastname: Wang
authors.forename: Hai-yan
authors.initials: HY
authors.lastname: Chai
authors.forename: Jing
authors.initials: J
authors.lastname: Yang
authors.forename: Yun
authors.initials: Y
authors.lastname: Li
authors.forename: Zhao-qun
authors.initials: ZQ
authors.lastname: Deng
authors.forename: Ji-chun
authors.initials: JC
authors.lastname: Ma
authors.forename: Xing-xing
authors.initials: XX
authors.lastname: Chen
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D056726:Genetic Association Studies; D006579:Heterozygote; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis / Q000235:genetics* / Q000401:mortality; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D009190:Myelodysplastic Syndromes / Q000175:diagnosis / Q000235:genetics* / Q000401:mortality; D009687:Nuclear Proteins / Q000235:genetics*; D011379:Prognosis; D012261:Ribonucleoproteins / Q000235:genetics*; D000072668:Splicing Factor U2AF; D018709:Statistics, Nonparametric; D055815:Young Adult
chemical_list: D009687:Nuclear Proteins; D012261:Ribonucleoproteins; D000072668:Splicing Factor U2AF; C076753:U2AF1 protein, human