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

Hdl Handle:
http://hdl.handle.net/10147/207778
Title:
Incidence and significance of FLT3-ITD and NPM1 mutations in patients with normal karyotype acute myeloid leukaemia.
Authors:
Haslam, K; Chadwick, N; Kelly, J; Browne, P; Vandenberghe, E; Flynn, C; Conneally, E; Langabeer, S E
Affiliation:
Cancer Molecular Diagnostics, Central Pathology Laboratory, St. James Hospital,, Dublin, Ireland. khaslam@stjames.ie
Citation:
Ir J Med Sci. 2010 Dec;179(4):507-10. Epub 2010 Aug 31.
Journal:
Irish journal of medical science
Issue Date:
1-Feb-2012
URI:
http://hdl.handle.net/10147/207778
DOI:
10.1007/s11845-010-0567-2
PubMed ID:
20803351
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. 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:
eng
MeSH:
Adolescent; Adult; 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
ISSN:
1863-4362 (Electronic); 0021-1265 (Linking)

Full metadata record

DC FieldValue Language
dc.contributor.authorHaslam, Ken_GB
dc.contributor.authorChadwick, Nen_GB
dc.contributor.authorKelly, Jen_GB
dc.contributor.authorBrowne, Pen_GB
dc.contributor.authorVandenberghe, Een_GB
dc.contributor.authorFlynn, Cen_GB
dc.contributor.authorConneally, Een_GB
dc.contributor.authorLangabeer, S Een_GB
dc.date.accessioned2012-02-01T10:44:24Z-
dc.date.available2012-02-01T10:44:24Z-
dc.date.issued2012-02-01T10:44:24Z-
dc.identifier.citationIr J Med Sci. 2010 Dec;179(4):507-10. Epub 2010 Aug 31.en_GB
dc.identifier.issn1863-4362 (Electronic)en_GB
dc.identifier.issn0021-1265 (Linking)en_GB
dc.identifier.pmid20803351en_GB
dc.identifier.doi10.1007/s11845-010-0567-2en_GB
dc.identifier.urihttp://hdl.handle.net/10147/207778-
dc.description.abstractBACKGROUND: 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.en_GB
dc.language.isoengen_GB
dc.subject.meshAdolescenten_GB
dc.subject.meshAdulten_GB
dc.subject.meshAgeden_GB
dc.subject.meshElectrophoresis, Agar Gelen_GB
dc.subject.meshFemaleen_GB
dc.subject.meshGenotypeen_GB
dc.subject.meshHumansen_GB
dc.subject.meshLeukemia, Myeloid, Acute/*geneticsen_GB
dc.subject.meshMaleen_GB
dc.subject.meshMiddle Ageden_GB
dc.subject.meshMutationen_GB
dc.subject.meshNuclear Proteins/*geneticsen_GB
dc.subject.meshPhosphoproteins/*geneticsen_GB
dc.subject.meshPrognosisen_GB
dc.subject.meshRetrospective Studiesen_GB
dc.subject.meshSeroepidemiologic Studiesen_GB
dc.subject.meshXYY Karyotypeen_GB
dc.subject.meshYoung Adulten_GB
dc.subject.meshfms-Like Tyrosine Kinase 3/*geneticsen_GB
dc.titleIncidence and significance of FLT3-ITD and NPM1 mutations in patients with normal karyotype acute myeloid leukaemia.en_GB
dc.contributor.departmentCancer Molecular Diagnostics, Central Pathology Laboratory, St. James Hospital,, Dublin, Ireland. khaslam@stjames.ieen_GB
dc.identifier.journalIrish journal of medical scienceen_GB
dc.description.provinceLeinster-

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