title: [CEBPA gene mutation analysis in acute myeloid leukemia].
abstract: OBJECTIVE
  To investigate the incidence, molecular features and clinical significance of CCAAT/enhancer binding protein alpha (CEBPA) gene mutation in patients with acute myeloid leukemia (AML).
  
  
  METHODS
  Mutation analysis of the entire coding region of CEBPA gene in 206 de novo AML patients was performed by using polymerase chain reaction (PCR) followed by sequence analysis and fragment length analysis.
  
  
  RESULTS
  Of 206 AML patients, 31 (15%) had CEBPA gene mutations, including 23 with double mutations (duCEBPA) and 8 with single mutation (siCEBPA). CEBPA gene mutations presented mainly in M2 subtype or intermediate risk patients. As compared with those with wild type CEBPA gene, patients with mutated CEBPA gene were of higher white blood cell counts [20.92(0.86-351.43)× 10(9)//L vs 8.17(0.47-295.2) × 10(9)/L, P=0.003], higher hemoglobin levels [97.5(51-128) g/L vs 80.5(13-153) g/L, P=0.015] and lower platelet counts [27.5(5-81)× 10(9)//L vs 44(3-548)× 10(9)/L, P=0.004]. Patients with CEBPA gene mutation had higher complete remission (CR) rate than those with wild type (P=0.009). While co-existing of NPM1 and siCEBPA mutations was observed in M5 subtype (2/8, 25%), NPM1 gene mutation was not present in any patients with duCEBPA mutation (0/23, 0%). Dynamic tracking analysis showed that CEBPA mutations disappeared at CR, and the same mutations re-appeared at relapse. When compared to sequence analysis, the coincidence rate of CEBPA mutations detected by fragment length analysis was 100% (54/54).
  
  
  CONCLUSIONS
  CEBPA gene mutation is a recurring genetic change in AML patients and has a certain correlation with clinical and laboratory features. It could be reliably used as a potential marker for minimal residual disease follow up. The prognostic significance of co-existing of siCEBPA with NPM1 mutations in patients with AML-M5 subtype needs further investigation.
authors.affiliation: Institute of Hematology and Blood diseases Hospital, CAMS & PUMC, Tianjin 300020, China.
authors.forename: Cong
authors.initials: C
authors.lastname: Han
authors.forename: Dong
authors.initials: D
authors.lastname: Lin
authors.forename: Xiao-fei
authors.initials: XF
authors.lastname: Ai
authors.forename: Fang
authors.initials: F
authors.lastname: Wang
authors.forename: Hai-yan
authors.initials: HY
authors.lastname: Sun
authors.forename: Min
authors.initials: M
authors.lastname: Wang
authors.forename: Ying-chang
authors.initials: YC
authors.lastname: Mi
authors.forename: Jian-xiang
authors.initials: JX
authors.lastname: Wang
authors.forename: Kun
authors.initials: K
authors.lastname: Ru
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D022762:CCAAT-Enhancer-Binding Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D015973:Gene Expression Regulation, Leukemic; D005838:Genotype; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000628:therapy; D008297:Male; D008875:Middle Aged; D009154:Mutation; D000090243:Nucleophosmin; D012150:Polymorphism, Restriction Fragment Length; D011379:Prognosis; D055815:Young Adult
chemical_list: D022762:CCAAT-Enhancer-Binding Proteins; C515848:CEBPA protein, human; C000716967:NPM1 protein, human; D000090243:Nucleophosmin