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Jeeyun Lee 1 Article
Comparison of Three BRAF Mutation Tests in Formalin-Fixed Paraffin Embedded Clinical Samples
Soomin Ahn, Jeeyun Lee, Ji-Youn Sung, So Young Kang, Sang Yun Ha, Kee-Taek Jang, Yoon-La Choi, Jung-Sun Kim, Young Lyun Oh, Kyoung-Mee Kim
Korean J Pathol. 2013;47(4):348-354.   Published online August 26, 2013
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AbstractAbstract PDF

Recently, BRAF inhibitors showed dramatic treatment outcomes in BRAF V600 mutant melanoma. Therefore, the accuracy of BRAF mutation test is critical.


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.


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.


In direct comparison of the currently available DPO-PCR, direct sequencing and real-time cobas test for BRAF mutation, real-time PCR assay is the most sensitive method.


Citations to this article as recorded by  
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  • BRAF and NRAS mutations and antitumor immunity in Korean malignant melanomas and their prognostic relevance: Gene set enrichment analysis and CIBERSORT analysis
    Kyueng-Whan Min, Ji-Young Choe, Mi Jung Kwon, Hye Kyung Lee, Ho Suk Kang, Eun Sook Nam, Seong Jin Cho, Hye-Rim Park, Soo Kee Min, Jinwon Seo, Yun Joong Kim, Nan Young Kim, Ho Young Kim
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  • The association between dermoscopic features and BRAF mutational status in cutaneous melanoma: Significance of the blue-white veil
    Miquel Armengot-Carbó, Eduardo Nagore, Zaida García-Casado, Rafael Botella-Estrada
    Journal of the American Academy of Dermatology.2018; 78(5): 920.     CrossRef
  • Comparison of Five Different Assays for the Detection of BRAF Mutations in Formalin-Fixed Paraffin Embedded Tissues of Patients with Metastatic Melanoma
    Claire Franczak, Julia Salleron, Cindy Dubois, Pierre Filhine-Trésarrieu, Agnès Leroux, Jean-Louis Merlin, Alexandre Harlé
    Molecular Diagnosis & Therapy.2017; 21(2): 209.     CrossRef
  • Validation of an NGS mutation detection panel for melanoma
    Anne Reiman, Hugh Kikuchi, Daniela Scocchia, Peter Smith, Yee Wah Tsang, David Snead, Ian A Cree
    BMC Cancer.2017;[Epub]     CrossRef
  • Transformation to Small Cell Lung Cancer of Pulmonary Adenocarcinoma: Clinicopathologic Analysis of Six Cases
    Soomin Ahn, Soo Hyun Hwang, Joungho Han, Yoon-La Choi, Se-Hoon Lee, Jin Seok Ahn, Keunchil Park, Myung-Ju Ahn, Woong-Yang Park
    Journal of Pathology and Translational Medicine.2016; 50(4): 258.     CrossRef
  • Immunohistochemistry with the anti-BRAF V600E (VE1) antibody: impact of pre-analytical conditions and concordance with DNA sequencing in colorectal and papillary thyroid carcinoma
    Katerina Dvorak, Birte Aggeler, John Palting, Penny McKelvie, Andrew Ruszkiewicz, Paul Waring
    Pathology.2014; 46(6): 509.     CrossRef

JPTM : Journal of Pathology and Translational Medicine