Li Xing-Jia, Mao Xiao-Dong, Chen Guo-Fang, Wang Qi-Feng, Chu Xiao-Qiu, Hu Xin, Ding Wen-Bo, Zeng Zheng, Wang Jian-Hua, Xu Shu-Hang, Liu Chao
Department of Endocrinology, Affiliated Hospital of Integrated Traditional Chinese and Western Medicine, Nanjing University of Chinese Medicine.
Key Laboratory of TCM Syndrome & Treatment of Yingbing of State Administration of Traditional Chinese Medicine, Jiangsu Province Academy of Traditional Chinese Medicine.
Medicine (Baltimore). 2019 Jul;98(28):e16343. doi: 10.1097/MD.0000000000016343.
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 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 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 mutation in their preoperative FNAC. In 175 cytologically indeterminate thyroid nodules, BRAF mutation identified 88% of PTC. According to ROC data, BRAF mutation testing had an obviously higher sensitivity (87.69%) and specificity (100.00%) than TBSRTC. Combining BRAF mutation testing and TBSRTC achieved the largest AUC (0.954). For 41 PTC with a negative BRAF mutation in preoperative evaluation, the repeated BRAF mutation testing found out 12 samples with BRAF mutation. The true BRAF mutation rate of Chinese PTC patients was 91.29%.Chinese patients with PTC have a higher frequency of BRAF mutation. The BRAF mutation testing affords a high diagnostic value in thyroid nodules with indeterminate cytology.
评估中国甲状腺乳头状癌(PTC)患者中BRAFV600E突变频率,以及BRAFV600E突变状态在甲状腺影像报告和数据系统(TBSRTC)分类为不确定的甲状腺结节中的诊断价值。从江苏省中西医结合医院的患者中连续收集了4875份甲状腺超声引导下细针穿刺活检(FNAC)样本及BRAF突变分析样本。所有病例中,314例行甲状腺切除术。根据TBSRTC分类,进行FNAC以进行术前诊断。构建受试者工作特征曲线(ROC)以评估这两种方法及其联合应用的诊断价值。甲状腺结节FNAC中BRAF突变发生在2796个样本中(57.35%)。314例接受甲状腺手术患者的353个结节样本中,333个经病理诊断为PTC。在这些PTC患者中,292例(87.69%)术前FNAC检测到BRAF突变。在175个细胞学检查结果不确定的甲状腺结节中,BRAF突变检出88%的PTC。根据ROC数据,BRAF突变检测的敏感性(87.69%)和特异性(100.00%)明显高于TBSRTC。BRAF突变检测与TBSRTC联合应用时曲线下面积(AUC)最大(0.954)。对于术前评估BRAF突变阴性的41例PTC,重复BRAF突变检测发现12个样本存在BRAF突变。中国PTC患者的BRAF真实突变率为91.29%。中国PTC患者的BRAF突变频率较高。BRAF突变检测在细胞学检查结果不确定的甲状腺结节中具有较高的诊断价值。