title: [Study on NPM1 gene mutations in patients with primary myelodysplastic syndromes].
abstract: OBJECTIVE
  To investigate NPM1 gene mutations in patients with primary myelodysplastic syndromes (MDS) and the clinical characteristics of patients with NPM1 mutants.
  
  
  METHODS
  Genomic DNA corresponding to exon 12 of NPM1 gene was amplified by polymerase chain reaction (PCR) in 232 patients with primary MDS. Identification of mutants was by direct sequencing and classification of mutation types by sequencing followed by plasmid cloning.
  
  
  RESULTS
  NPM1 mutants were found in 9 patients (3.9%). All the mutants were type A. As compared with those with NPM1 wild type, patients with the mutant were of lower ANC \[0.60 (0.12 - 2.91) × 10(9)/L vs 1.02 (0 - 10.23) × 10(9)/L, P = 0.046\], higher blast percent in bone marrow \[0.050 (0 - 0.090) vs 0.025 (0 - 0.190), P = 0.035\], decreased BFU-E \[0 (0 - 0)/10(5) BMMNC vs 6 (0 - 40)/10(5) BMMNC, P = 0.038\] and increased serum vitamin B(12) \[936.40 (373.80 - 2400.00) pmol/L vs 557.85 (17.00 - 3032.10) pmol/L, P = 0.045\] The chromosomal karyotypes of patients with NPM1 mutant were predominantly normal.
  
  
  CONCLUSIONS
  MDS patients with NPM1 gene mutations have some unique clinical and laboratory features. The results give new hint for the pathogenesis of MDS development and progression.
authors.affiliation: Institute of Hematology and Blood Diseases Hospital, State Key Laboratory of Experimental Hematology, CAMS & PUMC, Tianjin 300020, China.
authors.forename: Lin
authors.initials: L
authors.lastname: Li
authors.forename: Yue
authors.initials: Y
authors.lastname: Zhang
authors.forename: Xiao-Tang
authors.initials: XT
authors.lastname: Ma
authors.forename: Lin
authors.initials: L
authors.lastname: Yang
authors.forename: Ze-Feng
authors.initials: ZF
authors.lastname: Xu
authors.forename: Zhi-Jian
authors.initials: ZJ
authors.lastname: Xiao
mesh_terms: D005091:Exons; D006801:Humans; D007621:Karyotyping; D009154:Mutation; D009190:Myelodysplastic Syndromes / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D000090243:Nucleophosmin
chemical_list: C000716967:NPM1 protein, human; D009687:Nuclear Proteins; D000090243:Nucleophosmin