Journal of Pathology and Translational Medicine

Original Articles

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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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

SSTR2A Protein Expression in Neuroendocrine Neoplasms of the Colorectum.: Young Eun Kim, Jeeyun Lee, Young Suk Park, Kyoung Mee Kim; Korean J Pathol. 2011;45(3):276-280.; DOI: https://doi.org/10.4132/KoreanJPathol.2011.45.3.276

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21 Download

Abstract PDF: BACKGROUND
Expression studies of somatostatin receptor type 2A (SSTR2A) in neuroendocrine neoplasms (NENs) led to the development of clinically relevant diagnostic and therapeutic strategies. However, most of these strategies used in-house-developed antibodies and were focused on lung tumors. We evaluated commercially available SSTR2A antibodies in NENs of the colorectum to observe their subcellular localization and distribution within the resected tumor.
METHODS
The immunohistochemistry of 77 NENs located in the colorectum were studied using a commercially available antibody against SSTR2A.
RESULTS
Most neuroendocrine tumors (NET) grade (G)1 and G2 expressed the SSTR2A in the cytoplasm with apical or luminal localization. However, all neuroendocrine carcinomas (NEC) G3 were negative for SSTR2A.
CONCLUSIONS
Our data indicate that SSTR2A immunohistochemistry shows cytoplasmic staining with distinct subcellular localization in most NET G1 in the colorectum using a commercially available antibody. Low or no expression of SSTR2A in NET G2 and NEC G3 raises the possibility that SSTR2A may correlate with histologic differentiation and proliferative activity. Further validation studies in large case series are needed.

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