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1 "Dual-priming oligonucleotide-PCR"
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Original 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
DOI: https://doi.org/10.4132/KoreanJPathol.2013.47.4.348
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  • 9 Crossref
AbstractAbstract PDF
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 real-time cobas test for BRAF mutation, real-time PCR assay is the most sensitive method.

Citations

Citations to this article as recorded by  
  • Preoperative BRAFV600E mutation detection in thyroid carcinoma by immunocytochemistry
    Kristine Zøylner Swan, Stine Horskær Madsen, Steen Joop Bonnema, Viveque Egsgaard Nielsen, Marie Louise Jespersen
    APMIS.2022; 130(11): 627.     CrossRef
  • Strategy to reduce unnecessary surgeries in thyroid nodules with cytology of Bethesda category III (AUS/FLUS): a retrospective analysis of 667 patients diagnosed by surgery
    Yong Joon Suh, Yeon Ju Choi
    Endocrine.2020; 69(3): 578.     CrossRef
  • A new primer construction technique that effectively increases amplification of rare mutant templates in samples
    Jr-Kai Huang, Ling Fan, Tao-Yeuan Wang, Pao-Shu Wu
    BMC Biotechnology.2019;[Epub]     CrossRef
  • 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
    Pathology - Research and Practice.2019; 215(12): 152671.     CrossRef
  • 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

J Pathol Transl Med : Journal of Pathology and Translational Medicine