High BRAF(V600E) mutation frequency in Chinese patients with papillary thyroid carcinoma increases diagnostic efficacy in cytologically indeterminate thyroid nodules

To estimate the BRAFV600E mutation frequency in Chinese patients with papillary thyroid carcinoma (PTC), and the diagnostic value of BRAFV600E mutation status in thyroid nodules with indeterminate TBSRTC categories. A total of 4875 consecutive samples for thyroid ultrasound-guided fine-needle aspiration cytology (FNAC) and BRAF(V600E) mutation analysis were collected from patients at Jiangsu Province Hospital on Integration of Chinese and Western Medicine. Among all the cases, 314 underwent thyroidectomy. According to TBSRTC categories, FNAC was performed for a preoperative diagnosis. ROC of the subject was constructed to evaluate the diagnostic value of these 2 methods and their combination. BRAF(V600E) mutation in FNAC of thyroid nodules occurred in 2796 samples (57.35%). Of 353 nodule samples from 314 patients with thyroid operation, 333 were pathologically diagnosed as PTC. Of these PTC patients, 292 (87.69%) were found to have BRAF(V600E) mutation in their preoperative FNAC. In 175 cytologically indeterminate thyroid nodules, BRAF(V600E) mutation identified 88% of PTC. According to ROC data, BRAF(V600E) mutation testing had an obviously higher sensitivity (87.69%) and specificity (100.00%) than TBSRTC. Combining BRAF(V600E) mutation testing and TBSRTC achieved the largest AUC (0.954). For 41 PTC with a negative BRAF(V600E) mutation in preoperative evaluation, the repeated BRAF(V600E) mutation testing found out 12 samples with BRAF(V600E) mutation. The true BRAF(V600E) mutation rate of Chinese PTC patients was 91.29%. Chinese patients with PTC have a higher frequency of BRAF(V600E) mutation. The BRAF(V600E) mutation testing affords a high diagnostic value in thyroid nodules with indeterminate cytology.