Investigation of BRAF mutation analysis with different technical platforms in metastatic melanoma

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dc.contributor.authorSener E.
dc.contributor.authorYildirim P.
dc.contributor.authorTan A.
dc.contributor.authorGokoz O.
dc.contributor.authorTezel G.G.
dc.date.accessioned2024-07-22T08:10:49Z
dc.date.available2024-07-22T08:10:49Z
dc.date.issued2017
dc.description.abstractIn metastatic melanoma, the detection of somatic mutations in the BRAF gene is crucial regarding patient selection for targeted therapy. Several screening methods have been developed to identify BRAF gene mutations. In this study, our objective was to evaluate the detection of the BRAF V600 mutations using two molecular methods, real-time polymerase chain (real-time PCR) assay and pyrosequencing, and immunohistochemistry (IHC), and to compare the results of these different technical platforms. This study included 98 patients diagnosed with metastatic melanoma at the Hacettepe University, Department of Pathology between 2002 and 2014. BRAF mutation analysis was tested with real-time PCR, pyrosequencing and IHC methods. The results of all three tests were compared with a reference test, and the sensitivity, specificity rates and kappa coefficient values were analysed for each test. We successfully analysed BRAF mutations using all three methods in 92 patients. According to our findings, the pyrosequencing method had the highest kappa value regarding the determination of BRAF V600 mutations. The kappa values were at almost perfect agreement levels in pyrosequencing and real-time PCR assay (kappa coefficient for pyrosequencing = 0.895 (95% CI: 0.795–0.995); kappa coefficient for real-time PCR = 0.871 (95% CI: 0.761–0.981). The kappa value was at a substantial agreement level in the IHC analysis (kappa coefficient = 0.776 (95% CI: 0.629–0.923). According to our results, we found that real-time PCR and pyrosequencing methods were equally excellent in determination of BRAF V600 mutations. The IHC method, which is commonly used in routine pathology practice, can also be safely used as a screening test for determination of BRAF V600 mutations. © 2017 Elsevier GmbH
dc.identifier.DOI-ID10.1016/j.prp.2017.01.010
dc.identifier.issn03440338
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/15392
dc.language.isoEnglish
dc.publisherElsevier GmbH
dc.subjectAdult
dc.subjectAged
dc.subjectAged, 80 and over
dc.subjectBiomarkers, Tumor
dc.subjectDNA Mutational Analysis
dc.subjectFemale
dc.subjectHumans
dc.subjectImmunohistochemistry
dc.subjectMale
dc.subjectMelanoma
dc.subjectMiddle Aged
dc.subjectMutation
dc.subjectProto-Oncogene Proteins B-raf
dc.subjectReal-Time Polymerase Chain Reaction
dc.subjectSensitivity and Specificity
dc.subjectSkin Neoplasms
dc.subjectYoung Adult
dc.subjectB Raf kinase
dc.subjectB Raf kinase
dc.subjectBRAF protein, human
dc.subjecttumor marker
dc.subjectadult
dc.subjectaged
dc.subjectArticle
dc.subjectBRAF gene
dc.subjectcancer screening
dc.subjectcontrolled study
dc.subjectdiagnostic test accuracy study
dc.subjectfemale
dc.subjectgene mutation
dc.subjectgenetic association
dc.subjecthuman
dc.subjecthuman tissue
dc.subjectimmunohistochemistry
dc.subjectmajor clinical study
dc.subjectmale
dc.subjectmetastatic melanoma
dc.subjectmiddle aged
dc.subjectmutational analysis
dc.subjectpolymerase chain reaction system
dc.subjectpyrosequencing
dc.subjectreal time polymerase chain reaction
dc.subjectsensitivity and specificity
dc.subjectdna mutational analysis
dc.subjectenzymology
dc.subjectgenetics
dc.subjectmelanoma
dc.subjectmutation
dc.subjectpathology
dc.subjectsecondary
dc.subjectskin tumor
dc.subjectvery elderly
dc.subjectyoung adult
dc.titleInvestigation of BRAF mutation analysis with different technical platforms in metastatic melanoma
dc.typeArticle

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