Incidence and significance of FLT3-ITD and NPM1 mutations in patients with normal karyotype acute myeloid leukaemia.
Affiliation
Cancer Molecular Diagnostics, Central Pathology Laboratory, St. James Hospital,, Dublin, Ireland. khaslam@stjames.ieIssue Date
2012-02-01T10:44:24ZMeSH
AdolescentAdult
Aged
Electrophoresis, Agar Gel
Female
Genotype
Humans
Leukemia, Myeloid, Acute/*genetics
Male
Middle Aged
Mutation
Nuclear Proteins/*genetics
Phosphoproteins/*genetics
Prognosis
Retrospective Studies
Seroepidemiologic Studies
XYY Karyotype
Young Adult
fms-Like Tyrosine Kinase 3/*genetics
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Ir J Med Sci. 2010 Dec;179(4):507-10. Epub 2010 Aug 31.Journal
Irish journal of medical scienceDOI
10.1007/s11845-010-0567-2PubMed ID
20803351Abstract
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. AIMS: 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.Language
engISSN
1863-4362 (Electronic)0021-1265 (Linking)
ae974a485f413a2113503eed53cd6c53
10.1007/s11845-010-0567-2
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