Detection of NPM1 exon 12 mutations and FLT3 - internal tandem duplications by high resolution melting analysis in normal karyotype acute myeloid leukemia

Molecular characterisation of normal karyotype acute myeloid leukemia (NK-AML) allows prognostic stratification and potentially can alter treatment choices and pathways. Approximately 45-60% of patients with NK-AML carry NPM1 gene mutations and are associated with a favourable clinical outcome when...

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Bibliographic Details
Published in:Journal of hematology and oncology 2008-07, Vol.1 (1), p.10-10, Article 10
Main Authors: Tan, Angela Y C, Westerman, David A, Carney, Dennis A, Seymour, John F, Juneja, Surender, Dobrovic, Alexander
Format: Article
Language:English
Subjects:
Adult
Aged
Aged, 80 and over
DNA testing
Female
fms-Like Tyrosine Kinase 3 - genetics
Gene Duplication
Gene mutations
Genetic aspects
Genetic Testing - economics
Genetic Testing - methods
Health aspects
Humans
Identification and classification
Leukemia, Myeloid, Acute - genetics
Male
Methods
Middle Aged
Mutation
Nuclear Proteins - genetics
Short Report
Time Factors
Young Adult
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Summary:Molecular characterisation of normal karyotype acute myeloid leukemia (NK-AML) allows prognostic stratification and potentially can alter treatment choices and pathways. Approximately 45-60% of patients with NK-AML carry NPM1 gene mutations and are associated with a favourable clinical outcome when FLT3-internal tandem duplications (ITD) are absent. High resolution melting (HRM) is a novel screening method that enables rapid identification of mutation positive DNA samples. We developed HRM assays to detect NPM1 mutations and FLT3-ITD and tested diagnostic samples from 44 NK-AML patients. Eight were NPM1 mutation positive only, 4 were both NPM1 mutation and FLT3-ITD positive and 4 were FLT3-ITD positive only. A novel point mutation Y572C (c.1715A>G) in exon 14 of FLT3 was also detected. In the group with de novo NK-AML, 40% (12/29) were NPM1 mutation positive whereas NPM1 mutations were observed in 20% (3/15) of secondary NK-AML cases. Sequencing was performed and demonstrated 100% concordance with the HRM results. HRM is a rapid and efficient method of screening NK-AML samples for both novel and known NPM1 and FLT3 mutations. NPM1 mutations can be observed in both primary and secondary NK-AML cases.
ISSN:1756-8722
1756-8722
DOI:10.1186/1756-8722-1-10