title: [Clinical significance of IDH1 and IDH2 mutations in patients with acute myeloid leukemia].
abstract: OBJECTIVE
  To assess the frequencies and prognostic significance of the isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) mutations in acute myeloid leukemia (AML) and to explore their relevance to clinical, cytogenetic and molecular feature.
  
  
  METHODS
  Genomic DNA from 96 newly diagnosed AML patients from Sep. 2009 to Jan. 2011 was screened by RT-PCR and sequencing for IDH1 and 1DH2 mutation.
  
  
  RESULTS
  The prevalence of IDH1 (p. P127 and p. I130) and IDH2 mutations (p. R140) was 14.6% (14/ 96) and 2.17% (2/96) respectively. The IDH1 mutations of p. P127 and p. I130 were not reported so far in literature. Of 14 IDH1 mutation patients, 10 were with normal karyotype and the differences had statistical significance (P=0.021). Two patients with IDH2 mutation were also with normal karyotype. IDH2 mutations were in older patients at diagnosis. Patients with IDH mutation had higher white blood cell counts, lower platelet counts, expression of HLA-DR, CD34, CD33 and CD13, lower remission rate and higher relapse rate.
  
  
  CONCLUSIONS
  IDH mutation is recurring genetic change in AML and indicates poor prognosis.
authors.affiliation: Department of Hematology, the Affiliated Cancer Hospital of Zhengzhou University, Zhengzhou 450008, China.
authors.forename: Rui-hua
authors.initials: RH
authors.lastname: Mi
authors.forename: Xiao-dong
authors.initials: XD
authors.lastname: Lu
authors.forename: Xu-dong
authors.initials: XD
authors.lastname: Wei
authors.forename: Rui-hua
authors.initials: RH
authors.lastname: Fan
authors.forename: Qing-song
authors.initials: QS
authors.lastname: Yin
authors.forename: Jie-ying
authors.initials: JY
authors.lastname: Hu
authors.forename: Qian
authors.initials: Q
authors.lastname: Wang
authors.forename: Yong-ping
authors.initials: YP
authors.lastname: Song
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007521:Isocitrate Dehydrogenase / Q000235:genetics*; D059785:Karyotype; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011379:Prognosis; D055815:Young Adult
chemical_list: C538784:IDH2 protein, human; D007521:Isocitrate Dehydrogenase; C543588:IDH1 protein, human