악성 흑색종 환자에서 중합효소연쇄반응 기반의 BRAF 유전자 돌연변이 검사의 진단적 유효성: 체계적 문헌 고찰
Diagnostic Effectiveness of PCR-based Tests Detecting BRAF Mutation for Treating Malignant Melanoma: A Systematic Review
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배경: 이 연구는 체계적 문헌 고찰을 토대로 악성 흑색종 환자에서 중합효소연쇄반응 기반의 방법을 통한 B-type Raf Kinase (BRAF) 유전자 돌연변이 검사의 진단적 유효성을 평가하고자 하였다. 방법: 체계적 문헌 고찰은 KoreaMed를 포함한 8개 국내 데이터베이스와 Ovid-MEDLINE, Ovid-EMBASE의 국외 데이터베이스를 이용하였으며, 실시간 중합효소연쇄반응, dual priming oligonucleotide (DPO) 다중실시간 중합효소연쇄반응, allele specific-polymerase chain reaction (AS-PCR)을 수행한 총 9편의 문헌이 평가에 선택되었다. 2명의 평가자가 각 과정을 독립적으로 질 평가 및 자료추출을 수행하였다. 결과: BRAF 유전자 돌연변이의 검출률은 한국인이 11.1-17.2%로 서양인 36.7-82.2%보다 낮게 보고되었다. 본 평가에서 진단 정확도를 산출할 수 있었던 4편의 연구에서 참고검사를 직접 염기서열검사로 하였을 때, 메타분석 결과 실시간 중합효소연쇄반응의 진단 정확도는 통합민감도 0.96, 통합특이도 0.83, 전반적인 SROC AUC는 0.99였으며, 출판편향은 보이지 않았다. 또한, 참고검사와의 일치율은 87.9-98.1%였다. 결론: 실시간 중합효소연쇄반응은 말기암 또는 전이성 및 적출불가능한 악성 흑색종 환자에서 BRAF 유전자 돌연변이를 확인하여 BRAF 활성효소 억제제의 치료방침을 결정하는 데 있어 유효성이 있는 검사로 판단된다.
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.
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