title: SF3B1 mutation is a rare event in Chinese patients with acute and chronic myeloid leukemia.
abstract: OBJECTIVE
  Somatic mutations of SF3B1 gene have recently been identified in myelodysplastic syndrome and chronic lymphocytic leukemia. The frequency and clinical relevance of SF3B1 mutations have been rarely studied in acute myeloid leukemia (AML) and chronic myeloid leukemia (CML). The present study was aimed to analyze the frequency of SF3B1 mutations in AML and CML.
  
  
  METHODS
  High-resolution melting analysis (HRMA) was established to detect the mutation hotspots (codon E622, H662, K666, and K700) of SF3B1 gene in 275 AML and 81 CML patients.
  
  
  RESULTS
  Heterozygous SF3B1 mutations were detected in three AML patients by HRMA. Direct DNA sequencing identified one K666T, one K666N and one K700E mutations. All three AML patients had normal karyotypes. One case also had NPM1 and DNMT3A mutations, one had FLT3 internal tandem duplication and DNMT3A mutations, and the other had NPM1 mutation. No SF3B1 mutations were detected in CML patients.
  
  
  CONCLUSIONS
  SF3B1 mutation is a rare molecular event in Chinese AML and CML patients.
authors: Department of Hematology, Affiliated People's Hospital of Jiangsu University, Zhenjiang, Jiangsu 212002, People's Republic of China.
authors: Jing
authors: J
authors: Yang
authors: Jun
authors: J
authors: Qian
authors: Dong-ming
authors: DM
authors: Yao
authors: Si-xuan
authors: SX
authors: Qian
authors: Wei
authors: W
authors: Qian
authors: Jiang
authors: J
authors: Lin
authors: Gao-fei
authors: GF
authors: Xiao
authors: Cui-zhu
authors: CZ
authors: Wang
authors: Zhao-qun
authors: ZQ
authors: Deng
authors: Ji-chun
authors: JC
authors: Ma
authors: Xing-xing
authors: XX
authors: Chen
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D004252:DNA Mutational Analysis; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics*; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D000090243:Nucleophosmin; D010750:Phosphoproteins / Q000235:genetics*; D000072260:RNA Splicing Factors; D017413:Ribonucleoprotein, U2 Small Nuclear / Q000235:genetics*
chemical_list: C000716967:NPM1 protein, human; D010750:Phosphoproteins; D000072260:RNA Splicing Factors; D017413:Ribonucleoprotein, U2 Small Nuclear; C112491:SF3B1 protein, human; D000090243:Nucleophosmin