ArticlePloS one2016
Detection of BRAF Mutations Using a Fully Automated Platform and Comparison with High Resolution Melting, Real-Time Allele Specific Amplification, Immunohistochemistry and Next Generation Sequencing Assays, for Patients with Metastatic Melanoma.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 34 citations in OpenAlex.
- Selection Strategies and Practical Application of BRAF V600E-Mutated Non-Small Cell Lung Carcinoma.Cancer research and treatment · 2022Article
- Comparison of Two Rapid Assays for the Detection ofDiagnostics (Basel, Switzerland) · 2022Article
- Characterization and Clinical Utility ofCancers · 2021Article
- Quality assessment of a clinical next-generation sequencing melanoma panel within the Italian Melanoma Intergroup (IMI).Diagnostic pathology · 2020Article
- Detection of BRAF V600E Mutation in Ganglioglioma and Pilocytic Astrocytoma by Immunohistochemistry and Real-Time PCR-Based Idylla Test.Disease markers · 2020Article
- The Current State of Molecular Testing in the BRAF-Mutated Melanoma Landscape.Frontiers in molecular biosciences · 2020Review
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- Fully automated real-time PCR for EGFR testing in non-small cell lung carcinoma.Virchows Archiv : an international journal of pathology · 2019Article
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- BRAF mutation testing in melanoma: results from a German observational multicenter study.Virchows Archiv : an international journal of pathology · 2019Observational
- Article
- Article
- AcceleratedOncotarget · 2018Article
- Rapid BRAF mutation tests in patients with advanced melanoma: comparison of immunohistochemistry, Droplet Digital PCR, and the Idylla Mutation Platform.Melanoma research · 2018Article
- Authors' Reply to Uguen: "Comparison of Five Different Assays for the Detection of BRAF Mutations in Formalin-Fixed Paraffin Embedded Tissues of Patients with Metastatic Melanoma".Molecular diagnosis & therapy · 2017Article
- Detection ofOncotarget · 2017Article
- Molecular genetic and immunotherapeutic targets in metastatic melanoma.Virchows Archiv : an international journal of pathology · 2017Review
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMetastatic melanoma is a severe disease with one of the highest mortality rate in skin diseases. Overall survival has significantly improved with immunotherapy and targeted therapies. Kinase inhibitors targeting BRAF V600 showed promising results. BRAF genotyping is mandatory for the prescription of anti-BRAF therapies.
methodsFifty-nine formalin-fixed paraffin-embedded melanoma samples were assessed using High-Resolution-Melting (HRM) PCR, Real-time allele-specific amplification (RT-ASA) PCR, Next generation sequencing (NGS), immunohistochemistry (IHC) and the fully-automated molecular diagnostics platform IdyllaTM. Sensitivity, specificity, positive predictive value and negative predictive value were calculated using NGS as the reference standard to compare the different assays.
resultsBRAF mutations were found in 28(47.5%), 29(49.2%), 31(52.5%), 29(49.2%) and 27(45.8%) samples with HRM, RT-ASA, NGS, IdyllaTM and IHC respectively. Twenty-six (81.2%) samples were found bearing a c.1799T>A (p.Val600Glu) mutation, three (9.4%) with a c.1798_1799delinsAA (p.Val600Lys) mutation and one with c.1789_1790delinsTC (p.Leu597Ser) mutation. Two samples were found bearing complex mutations.
conclusionsHRM appears the less sensitive assay for the detection of BRAF V600 mutations. The RT-ASA, IdyllaTM and IHC assays are suitable for routine molecular diagnostics aiming at the prescription of anti-BRAF therapies. IdyllaTM assay is fully-automated and requires less than 2 minutes for samples preparation and is the fastest of the tested assays.
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