VE1 immunohistochemistry is an adjunct tool for detection of BRAF^V600E mutation: Validation in thyroid cancer patients

Abstract

Papillary thyroid carcinoma (PTC) is the most common endocrine malignancy among other endocrine tumors, and BRAFV600E is a frequent genetic mutation occurring in the disease. Although different molecular techniques, most importantly sequencing has been widely recognized as a gold standard but molecular diagnosis remains an expensive, laborious, and time‐intensive process. Recently, immunohistochemistry (IHC) with anti‐BRAF V600E (VE1) antibody has increased practical utility and implemented clinically for the detection of BRAFV600E mutation. Therefore, the study aimed to evaluate diagnostic accuracy of VE1 IHC for detecting the BRAFV600E mutation frequency and clinical implementation in diagnostic laboratories. In this study, 72 formalin fixed paraffin‐embedded tissues (FFPE) were used to determine the BRAFV600E mutation status using IHC and Sanger sequencing. The mutation was found in 29% and 28% cases using IHC and Sanger sequencing, respectively. Furthermore, the results showed 100% sensitivity, 98.07% specificity, 95.2% positive predictive value, and 100% negative predictive value. Notably, significant associations were found between BRAFV600E status and tumor stage, tumor focality, and extrathyroidal extensions, respectively. VE1 IHC was found to be a highly sensitive, specific, and diagnostically accurate method in this cohort. Therefore, BRAFV600E detection through IHC has been considered as the best tailored technique for routine pathology laboratories.

Comparative BRAF V600E immunohistochemical expression in differentiated thyroid tumors with papillary features

“…This study shows that the female gender is more predominant in PTC than males. This finding is consistent with Rashid et al , who demonstrated a high female prevalence compared to males [ 19 ], and more studies agreed with this finding [ 24 , 25 ]. Another study demonstrated no differences between females and males [ 26 ].…”

“…The BRAF is the most prevalent mutation in thyroid cancer, which occurs in more than 50% of papillary thyroid cancers (PTCs) and approximately 45% of anaplastic thyroid cancer [ 18 ]. Asian populations have a higher BRAF mutation rate than Western countries [ 19 ].…”

Comparative efficiency of differential diagnostic methods for the identification of BRAF V600E gene mutation in papillary thyroid cancer (Review)

“…Rashid et al ( 51 ) previously reported an IHC analysis method for PTC tissues using VE1 antibody, where a rate of concordance of 98.6% was found between IHC and sequencing-based mutation detection in 72 patients with PTC. In addition, the detection rate of BRAF mutation was higher in IHC analysis compared with Sanger sequencing.…”

Comparison of diagnostic methods for detection of BRAFV600E mutation in ameloblastoma

“…Genetic methods like high resolution melting (HRM) analysis, pyrosequencing, amplification refractory mutation system (ARMS) or allelespecific PCR, and next generation sequencing (NGS) are other testing methods. 12 Interestingly, immunohistochemistry (IHC), a widely available low-cost technique is a highly sensitive and specific detection method for BRAFV600E in melanoma and thyroid cancer 13,14 which makes IHC a very useful adjunctive test for BRAFV600E in ameloblastoma.…”