VE1 Immunohistochemistry Improves the Limit of Genotyping for Detecting BRAFV600E Mutation in Papillary Thyroid Cancer

Cancers
Sonam ChodenAndrey Bychkov

Abstract

Detection of BRAFV600E is useful for making diagnosis and risk stratification of papillary thyroid carcinoma (PTC). Molecular testing, however, is not always available for routine clinical use. To assess the clinical utility and reliability of VE1 immunohistochemistry (IHC) for detecting BRAFV600E mutation in PTC, VE1 IHC was performed on the tissue microarrays of 514 patients with PTC and was compared with Sanger sequencing results. Of 514 PTC cases, 433 (84.2%) were positive for VE1 expression. Among 6 discordant cases between VE1 IHC and Sanger sequencing, 3 initial VE1-false negative cases turned out to be true false negative on repeat testing, and 3 VE1-false positive cases showed BRAFV600E mutation using digital PCR analysis. PTCs with low variant allele fraction were positive for VE1 IHC but were not detected using sequencing. VE1 IHC showed 99.3% sensitivity, 100% specificity, 100% positive predictive value, and 96.4% negative predictive value. The BRAFV600E mutation was significantly associated with older age, multifocality, extrathyroidal extension, lymph node metastasis, and advanced tumor stage. In conclusion, VE1 IHC is a reliable method for detecting BRAFV600E mutation in PTC specimens.

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Citations

Dec 12, 2020·Journal of Clinical Laboratory Analysis·Faiza A RashidSyed Sameer Aga
Dec 10, 2020·Fetal and Pediatric Pathology·Dang Anh Thu PhanThanh Tung Tran
Nov 4, 2020·Head and Neck Pathology·Jijgee MunkhdelgerAndrey Bychkov
Mar 9, 2021·Endocrinology and Metabolism·Chan Kwon JungKennichi Kakudo

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Methods Mentioned

BETA
PCR
genotyping
biopsies

Software Mentioned

SNaPshot
QuantStudio 3D AnalysisSuite Cloud
SPSS
QuantStudio

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