超声引导下FNAC联合BRAFV600E基因突变检测在甲状腺结节诊断中的意义

目的探讨超声引导下细针穿刺细胞学(UG-FNAC)联合BRAFV600E基因突变检测在甲状腺结节术前诊断中的作用。方法回顾性分析300例甲状腺结节UG-FNAC检查结果及BRAFV600E基因突变检测结果,同时对其中120例手术切除病例的组织病理学进行分析。结果300例UG-FNAC结果按照Bethesda报告系统(2017版)进行分类,Ⅰ类:25例,占8.3%;Ⅱ类:53例,占17.7%;Ⅲ类:14例,占4.7%;Ⅳ类:7例,占2.3%;Ⅴ类:20例,占6.7%;Ⅵ类:181例,占60.3%。300例FNAC样本中,BRAF V600E检测173例(57.7%)为突变型,127例(42.3%)为野生型。120例手术切除病例的组织病理学结果,良性病变6例,占5%;恶性肿瘤114例,占95%;BRAFV600E在甲状腺乳头状癌(PTC)中的突变率为87.5%。结论UG-FNAC联合BRAFV600E基因突变检测是诊断甲状腺结节良、恶性准确有效的方法,具有重要的临床指导作用。

Significance of ultrasound guided fine needle aspiration cytology combined with BRAFV600E mutation detection in diagnosis of thyroid nodules

Objective To investigate the pre-operative diagnostic value of the ultrasound-guided fine needle aspiration cytology(UG-FNAC)combined with BRAFV600 E mutation detection of thyroid nodules.Methods BRAFV600 E mutation in 300 cases with UG-FNAC findings and 120/300 cases with post-operative pathologic results were retrospectively analyzed.Results According to Bethesda Reporting System,and 300 cases with FNAC results,25(8.33%)were nondiagnostic or unsatisfactory,53(17.67%)benign,14(4.67%)atypia of undetermined significance(AUS)or follicular lesion of undetermined significance(FLUS),7(2.33%)follicular neoplasm or suspicious for a follicular neoplasm,20(6.67%)suspicious for malignancy,and 181(60.33%)malignant.The overall BRAF V600 E mutation prevalence was 57.67%(173 of 300).Among 120 cases with post-operative pathologic results,6 cases were benign tumors and 114 were malignant tumors.And the BRAF V600 E mutation prevalence in these 112 patients with papillary thyroid carcinoma(PTC)was 87.5%(98 of 112 cases).Conclusion Combination of BRAFV600 E mutation detection with UG-FNAC is an effective method in differentiation of benign from malignant thyroid nodules.