• Ir J Med Sci · Dec 2010

    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, and S E Langabeer.
    • Cancer Molecular Diagnostics, Central Pathology Laboratory, St. James Hospital, Dublin, Ireland. khaslam@stjames.ie
    • Ir J Med Sci. 2010 Dec 1; 179 (4): 507-10.

    BackgroundAcute 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.AimsTo determine the incidence and prognostic significance of NPM1 and FLT3-ITD mutations in a population of patients with NK-AML.MethodsFLT3-ITD and NPM1 mutation status was retrospectively sought in presentation samples from 44 NK-AML patients.ResultsFLT3-ITD and NPM1 mutations were detected in 45.5 and 54.5% of patients, respectively, allowing stratification according to genotype.ConclusionsFLT3-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.

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