Comparison of Three BRAF Mutation Tests in Formalin-Fixed Paraffin Embedded Clinical Samples
안수민, 이지윤, 성지연, 강소영, 하상윤, 장기택, 최윤라, 김정선, 오영륜, 김경미,
소속 상세정보
안수민 ( Ahn Soo-Min )
Sungkyunkwan University School of Medicine Samsung Medical Center Department of Pathology
이지윤 ( Lee Jee-Yun )
Sungkyunkwan University School of Medicine Samsung Medical Center Department of Medicine
성지연 ( Sung Ji-Youn )
Kyung Hee University School of Medicine Department of Pathology
강소영 ( Kang So-Young )
Sungkyunkwan University School of Medicine Samsung Medical Center Department of Pathology
하상윤 ( Ha Sang-Yun )
Sungkyunkwan University School of Medicine Samsung Medical Center Department of Pathology
장기택 ( Jang Kee-Taek )
Sungkyunkwan University School of Medicine Samsung Medical Center Department of Pathology
최윤라 ( Choi Yoon-La )
Sungkyunkwan University School of Medicine Samsung Medical Center Department of Pathology
김정선 ( Kim Jung-Sun )
Sungkyunkwan University School of Medicine Samsung Medical Center Department of Pathology
오영륜 ( Oh Young-Lyun )
Sungkyunkwan University School of Medicine Samsung Medical Center Department of Pathology
김경미 ( Kim Kyoung-Mee )
Sungkyunkwan University School of Medicine Samsung Medical Center Department of Pathology
KMID : 0357920130470040348
Abstract
Background: Recently, BRAF inhibitors showed dramatic treatment outcomes in BRAF V600 mutant melanoma. Therefore, the accuracy of BRAF mutation test is critical. Methods: BRAF mutations were tested by dual-priming oligonucleotide-polymerase chain reaction (DPO-PCR), direct sequencing and subsequently retested with a real-time PCR assay, cobas 4800 V600 mutation test. In total, 64 tumors including 34 malignant melanomas and 16 papillary thyroid carcinomas were analyzed. DNA was extracted from formalin-fixed paraffin embedded tissue samples and the results of cobas test were directly compared with those of DPO-PCR and direct sequencing. Results: BRAF mutations were found in 23 of 64 (35.9%) tumors. There was 9.4% discordance among 3 methods. Out of 6 discordant cases, 4 cases were melanomas; 3 cases were BRAF V600E detected only by cobas test, but were not detected by DPO-PCR and direct sequencing. One melanoma patient with BRAF mutation detected only by cobas test has been on vemurafenib treatment for 6 months and showed a dramatic response to vemurafenib. DPO-PCR failed to detect V600K mutation in one case identified by both direct sequencing and cobas test. Conclusions: In direct comparison of the currently available DPO-PCR, direct sequencing and realtime cobas test for BRAF mutation, real-time PCR assay is the most sensitive method.
키워드
BRAF mutation; Melanoma; Real-time polymerase chain reaction; Sanger sequencing; Dual-priming oligonucleotide-PCR
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