ArticleJournal of hematology & oncology2008
Detection of NPM1 exon 12 mutations and FLT3 - internal tandem duplications by high resolution melting analysis in normal karyotype acute myeloid leukemia.
Article in Journal of hematology & oncology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 49 citations in OpenAlex.
- Is high resolution melting analysis (HRMA) accurate for detection of human disease-associated mutations? A meta analysis.PloS one · 2011Pooled it
- Article
- Molecular study of Nucleophosmin 1(NPM1) gene in acute myeloid leukemia in Kurdish population.African health sciences · 2021Article
- Identification of FLT3 and NPM1 Mutations in Patients with Acute Myeloid Leukaemia.Asian Pacific journal of cancer prevention : APJCP · 2019Article
- Establishment of a quenching probe method for detection ofOncology letters · 2016Article
- High-resolution melting (HRM) assay for the detection of recurrent BRCA1/BRCA2 germline mutations in Tunisian breast/ovarian cancer families.Familial cancer · 2014Article
- High-resolution melting curve analysis, a rapid and affordable method for mutation analysis in childhood acute myeloid leukemia.Frontiers in pediatrics · 2014Article
- New Quantitative Method to Identify NPM1 Mutations in Acute Myeloid Leukaemia.Leukemia research and treatment · 2013Article
- Molecular-based classification of acute myeloid leukemia and its role in directing rational therapy: personalized medicine for profoundly promiscuous proliferations.Molecular diagnosis & therapy · 2012Review
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMolecular 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.
resultsWe 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.
conclusionHRM 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.
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