ArticleThe Journal of molecular diagnostics : JMD2009
Rapid detection of KIT mutations in core-binding factor acute myeloid leukemia using high-resolution melting analysis.
Article in The Journal of molecular diagnostics : JMD, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 2 of them syntheses that pooled it.
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Who cites it
11 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Diagnostic accuracy of high resolution melting analysis for detection of KRAS mutations: a systematic review and meta-analysis.Scientific reports · 2014Pooled it
- Is high resolution melting analysis (HRMA) accurate for detection of human disease-associated mutations? A meta analysis.PloS one · 2011Pooled it
- A Peptide Vaccine Design Targeting KIT Mutations in Acute Myeloid Leukemia.Pharmaceuticals (Basel, Switzerland) · 2023Article
- Detection of KIT mutations in core binding factor acute myeloid leukemia.Leukemia research reports · 2018Article
- A novel melting curve-based method for detectingOncology letters · 2014Article
- High-resolution melting curve analysis, a rapid and affordable method for mutation analysis in childhood acute myeloid leukemia.Frontiers in pediatrics · 2014Article
- High resolution melting analysis: a rapid and accurate method to detect CALR mutations.PloS one · 2014Article
- A subset of gastrointestinal stromal tumors previously regarded as wild-type tumors carries somatic activating mutations in KIT exon 8 (p.D419del).Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2013Article
- Ultrasensitive detection of drug-resistant pandemic 2009 (H1N1) influenza A virus by rare-variant-sensitive high-resolution melting-curve analysis.Journal of clinical microbiology · 2011Article
- Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting.The Journal of molecular diagnostics : JMD · 2011Article
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10 authors.
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Abstract
The most frequent KIT mutations reported in core-binding factor acute myeloid leukemia are point mutations and insertions/deletions in exons 17 and 8. The vast majority of KIT mutation detection procedures are time-consuming, costly, or with a high lower limit of detection. High-resolution melting (HRM) is a gene scanning method that combines simplicity and rapid identification of genetic variants. We describe an HRM method for the simultaneous screening of exons 8 and 17 KIT mutations and report the results obtained in 69 core-binding factor acute myeloid leukemia patients. Mutation detection was compared with sequencing as the gold standard. The HRM method used high-resolution melting master reagents (Roche) and the LightCycler 480 (Roche) platform. HRM was reproducible, showed a lower limit of detection of 1%, and discriminated all patients with mutated KIT from controls without false positive or false negative results. Additionally, most of the mutations were differentiated from the other mutations. KIT mutations were present in 15.9% of patients, showing a higher incidence in inv(16) (25.8%) than in t(8;21) (7.9%). The presence of a KIT mutation was associated with a high white blood cell count, and adult patients with an exon 17 mutation had a higher incidence of relapse. These findings verify that HRM is a reliable, rapid, and sensitive method for KIT mutation screening. Furthermore, our study corroborates the unfavorable prognosis associated with exon 17 KIT mutations.
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