title: Incidence and significance of FLT3-ITD and NPM1 mutations in patients with normal karyotype acute myeloid leukaemia.
abstract: BACKGROUND
  Acute myeloid leukaemia (AML) is a heterogeneous clonal disorder of haematopoietic progenitor cells. Approximately half of all adult AML patients have a normal karyotype (NK-AML) and an intermediate risk prognosis.
  
  
  OBJECTIVE
  To determine the incidence and prognostic significance of NPM1 and FLT3-ITD mutations in a population of patients with NK-AML.
  
  
  METHODS
  FLT3-ITD and NPM1 mutation status was retrospectively sought in presentation samples from 44 NK-AML patients.
  
  
  RESULTS
  FLT3-ITD and NPM1 mutations were detected in 45.5 and 54.5% of patients, respectively, allowing stratification according to genotype.
  
  
  CONCLUSIONS
  FLT3-ITD and NPM1 mutation status can be defined in NK-AML. Prospective screening for these mutations is advocated in all NK-AML patients, as the genotype is of clinical importance when considering treatment options including stem cell transplantation.
authors.affiliation: Cancer Molecular Diagnostics, Central Pathology Laboratory, St. James Hospital, Dublin, Ireland. khaslam@stjames.ie
authors.forename: K
authors.initials: K
authors.lastname: Haslam
authors.forename: N
authors.initials: N
authors.lastname: Chadwick
authors.forename: J
authors.initials: J
authors.lastname: Kelly
authors.forename: P
authors.initials: P
authors.lastname: Browne
authors.forename: E
authors.initials: E
authors.lastname: Vandenberghe
authors.forename: C
authors.initials: C
authors.lastname: Flynn
authors.forename: E
authors.initials: E
authors.lastname: Conneally
authors.forename: S E
authors.initials: SE
authors.lastname: Langabeer
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D004587:Electrophoresis, Agar Gel; D005260:Female; D005838:Genotype; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D000090243:Nucleophosmin; D010750:Phosphoproteins / Q000235:genetics*; D011379:Prognosis; D012189:Retrospective Studies; D016036:Seroepidemiologic Studies; D014997:XYY Karyotype; D055815:Young Adult; D051941:fms-Like Tyrosine Kinase 3 / Q000235:genetics*
chemical_list: C000716967:NPM1 protein, human; D009687:Nuclear Proteins; D010750:Phosphoproteins; D000090243:Nucleophosmin; C497970:FLT3 protein, human; D051941:fms-Like Tyrosine Kinase 3
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