title: [Analysis of NPM1 gene mutations in acute myeloid leukemia].
abstract: OBJECTIVE
  To evaluate the prevalence of nucleophosmin (NPM1) gene exon 12 mutations in adults with acute myeloid leukemia (AML) and its clinical characteristics.
  
  
  METHODS
  Genomic DNAs from 101 AML adults were screened by PCR and sequencing or capillary electrophoresis (CE) for NPMI mutations.
  
  
  RESULTS
  NPM1 exon 12 mutations were present in 31.7% of the overall cohort, including 1/1 (100%) of M0, 9/17(52.9%) of M1 , 7/25 (28.0%) of M2, 0/23(0%) of M3, 2/7 (28.6%) of M4 and 13/25 (52.0% ) of M5. NPM1 gene mutations were more prevalent in patients with normal karyotype (27/59, 45.8%) compared with that in those with karyotypic abnormalities (5/42, 11.9% ) (P < 0.001). NPM1 mutant cases were significantly associated with old age (P < 0.05), high peripheral white cell count (P < 0.05) and low expression of CD34 (P < 0.05) and CD17 (P<0.05). Sequence analysis of these NPM1 mutant cases revealed 5 known mutations (type A, B, D, N(M), and P(M)) and 1 novel variant (named as type S).
  
  
  CONCLUSIONS
  NPM1 exon 12 mutations occur with a considerable percentage in AML patients with normal karyotype, M1/M5 subtype and older age, and are associated with higher peripheral white cell count and lower expression of CD34 and CD117.
authors: First Affiliated Hospital of Soochow University, Jiangsu Institute of Hematology, Suzhou 215006, China.
authors: Ling-zhi
authors: LZ
authors: Yan
authors: Su-ning
authors: SN
authors: Chen
authors: Jian-ying
authors: JY
authors: Liang
authors: Yu-feng
authors: YF
authors: Feng
authors: Jian-nong
authors: JN
authors: Cen
authors: Jun
authors: J
authors: He
authors: Wei-rong
authors: WR
authors: Chang
authors: Zi-ling
authors: ZL
authors: Zhu
authors: Jin-lan
authors: JL
authors: Pan
authors: Ya-fang
authors: YF
authors: Wu
authors: Yong-quan
authors: YQ
authors: Xue
authors: De-pei
authors: DP
authors: Wu
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D000090243:Nucleophosmin
chemical_list: C000716967:NPM1 protein, human; D009687:Nuclear Proteins; D000090243:Nucleophosmin