Diagnostic Effectiveness of PCR-based Tests Detecting BRAF Mutation for Treating Malignant Melanoma: A Systematic Review

ABSTRACT

BACKGROUND: We aimed to conduct a systematic review of previously published material to evaluate the diagnostic effectiveness of PCR-based tests in detecting BRAF mutation. METHODS: Eight Korean databases, including KoreaMed, Ovid-MEDLINE, and Ovid-EMBASE were used to identify relevant published studies. Nine studies describing usage of real-time PCR, dual-priming oligonucleotide (DPO)-multiplex real-time PCR and allele-specific PCR were included in the final assessment. Two reviewers screened all references independently for assessing the quality of the included articles and extracted data. RESULTS: The rate of detection of the BRAF mutations was lower in the Korean population (11.1-17.2%) than that in the Western population (36.7-82.2%). The diagnostic accuracy of the BRAF mutation tests was assessed on the basis of four previous reports, all of which employed real-time PCR on malignant melanoma. In fact, the diagnostic accuracy of real-time PCR was found to be higher than that of sequencing tests (pooled sensitivity, 0.96; pooled specificity, 0.83; and summary receiver operating characteristic area under the curve, 0.99). In addition, we found that there was no publication bias in meta-analysis. The concordance rate of the BRAF mutation tests compared with reference tests was 87.9-98.1%. CONCLUSIONS: Real-time PCR for the detection of the BRAF gene mutation is an effective technology for determining the appropriateness of treatment with BRAF kinase inhibitors in terminal stage cancer as well as metastatic and malignant melanoma.