Lab Med Online.  2014 Oct;4(4):203-211. 10.3343/lmo.2014.4.4.203.

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

Affiliations
  • 1Department of Laboratory Medicine, College of Medicine, Chungnam National University, Daejeon, Korea. shkoo@cnu.ac.kr
  • 2Department of New Health Technology Assessment Research, National Evidence-based, Healthcare Collaborating Agency, Seoul, Korea.

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.

Keyword

BRAF mutation; Melanoma; PCR; Systematic review
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