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KMID : 0357920130470040348
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Korean Journal of Pathology
2013 Volume.47 No. 4 p.348 ~ p.354
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Comparison of Three BRAF Mutation Tests in Formalin-Fixed Paraffin Embedded Clinical Samples
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Ahn Soo-Min
Lee Jee-Yun
Sung Ji-Youn
Kang So-Young
Ha Sang-Yun
Jang Kee-Taek
Choi Yoon-La
Kim Jung-Sun
Oh Young-Lyun
Kim Kyoung-Mee
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Abstract
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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.
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KEYWORD
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BRAF mutation, Melanoma, Real-time polymerase chain reaction, Sanger sequencing, Dual-priming oligonucleotide-PCR
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