关键词: BRAF V600E基因, VE1, 甲状腺乳头状癌

Abstract: Background and purpose: The BRAF V600E mutation is a highly attractive drug target. Therefore, determining the BRAF gene mutation status of patients is essential in order to assess patients’ eligibility for targeted BRAF gene inhibitor therapy. The aim of this study was to validate the utility of immunohistochemistry to rapidly obtain the BRAF gene mutation status. This study aimed to analyze the correlation of the BRAF V600E gene mutation and VE1 protein expression with the clinical pathological characteristics in papillary thyroid carcinoma (PTC). Methods: The mutation status of BRAF V600E was detected by DNA sequencing. Immunohistochemistry was used to detect the expression of BRAF V600E protein in 108 cases of PTC, 54 cases of thyroid adenoma and 54 cases of normal thyroid tissue. Results: The gene mutation rate of BRAF V600E is 67.6%, and VE1 protein expression rate is 64.8% in 108 cases of PTC. The differences were statistically significant compared with thyroid adenoma and goiter (P<0.05), but have no correlation with the clinical pathological characteristics. Conclusion: BRAF V600E gene mutation and VE1 protein expression are useful biomarkers for the pathological diagnosis of PTC. High consistency was observed between the immunohistochemical staining results and the DNA sequencing results of BRAF V600E gene mutations. Immunohistochemical technique detecting the BRAF V600E protein expression can effectively reflect indirectly BRAF V600E gene mutation status in PTC. BRAF V600E gene mutation has no contribution to the development of papillary thyroid carcinoma.

Key words: BRAF V600E gene, VE1, Papillary thyroid carcinoma