Irish Journal of Medical Science

, Volume 179, Issue 4, pp 507–510

Incidence and significance of FLT3-ITD and NPM1 mutations in patients with normal karyotype acute myeloid leukaemia

  • K. Haslam
  • N. Chadwick
  • J. Kelly
  • P. Browne
  • E. Vandenberghe
  • C. Flynn
  • E. Conneally
  • S. E. Langabeer
Original Article



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.


To determine the incidence and prognostic significance of NPM1 and FLT3-ITD mutations in a population of patients with NK-AML.


FLT3-ITD and NPM1 mutation status was retrospectively sought in presentation samples from 44 NK-AML patients.


FLT3-ITD and NPM1 mutations were detected in 45.5 and 54.5% of patients, respectively, allowing stratification according to genotype.


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.


AML Nucleophosmin FLT3-ITD Normal karyotype Prognosis Genotype 


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Copyright information

© Royal Academy of Medicine in Ireland 2010

Authors and Affiliations

  • K. Haslam
    • 1
  • N. Chadwick
    • 2
  • J. Kelly
    • 3
  • P. Browne
    • 2
  • E. Vandenberghe
    • 2
  • C. Flynn
    • 2
  • E. Conneally
    • 2
  • S. E. Langabeer
    • 1
  1. 1.Cancer Molecular Diagnostics, Central Pathology LaboratorySt. James HospitalDublinIreland
  2. 2.Department of HaematologySt. James HospitalDublinIreland
  3. 3.National Centre for Medical GeneticsOur Lady’s Children’s HospitalDublinIreland

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