BRAF^(V600E)基因突变检测在不确定意义(Bethesda Ⅲ和Ⅳ类)细胞学结果的甲状腺结节中的应用价值  

Application value of BRAF^(V600E) gene mutation detection in indeterminate thyroid nodules(Bethesda Ⅲ and Ⅳ)

作　　者：许教远 胡昆鹏[2] 车翠薇 郑庆生 梁悦浓 陈杰桓 XU Jiaoyuan;HU Kunpeng;CHE Cuiwei;ZHENG Qingsheng;LIANG Yuenong;CHEN Jiehuan(Department of Head and Neck Surgery,Binhaiwan Central Hospital of Dongguan,Guangdong Dongguan 523000,China;Department of General Surgery,the Third Affiliated Hospital of Sun Yat-sen University,Guangdong Guangzhou 510630,China;Department of Ultrasound,Binhaiwan Central Hospital of Dongguan,Guangdong Dongguan 523000,China)

机构地区：[1]东莞市滨海湾中心医院头颈外科,广东东莞523000 [2]中山大学附属第三医院普外科,广东广州510630 [3]东莞市滨海湾中心医院超声科,广东东莞523000

出　　处：《现代肿瘤医学》2021年第10期1687-1691,共5页Journal of Modern Oncology

基　　金：国家自然青年科学基金(编号:81702375);广东省自然科学基金(编号:2016A030313200)。

摘　　要：目的:探讨BRAF^(V600E)基因突变检测在首次细胞学诊断为BethesdaⅢ和Ⅳ类的甲状腺结节中的临床应用价值。方法:回顾性分析2016年1月至2019年6月我院首次细胞学诊断为BethesdaⅢ和Ⅳ类,后于超声科行第二次超声引导下细针穿刺细胞学检查(FNAB)和BRAF^(V600E)基因突变检测的甲状腺结节患者资料,以手术病理结果为甲状腺结节性质诊断的金标准,比较分析FNAB、BRAF^(V600E)基因突变、FNAB联合BRAF^(V600E)基因突变检测在病理诊断为不确定意义细胞学结果的甲状腺结节中的诊断效能。结果:92例首次细胞学结节为BethesdaⅢ和Ⅳ类的甲状腺结节均经手术病理证实。术后病理结果为恶性有54例,良性有38例。BRAF^(V600E)基因突变诊断甲状腺癌的准确率为81.5%,灵敏度为68.5%,特异度为100%,阳性预测值为100%,阴性预测值为69.1%。FNAB诊断甲状腺癌的准确率为72.8%,灵敏度为70.4%,特异度为76.3%,阳性预测值为80.9%,阴性预测值为64.4%。FNAB联合BRAF^(V600E)基因突变检测诊断甲状腺癌的准确率为90.2%,灵敏度为92.6%,特异度为86.8%,阳性预测值为90.9%,阴性预测值为89.2%。FNAB联合BRAF^(V600E)基因突变检测的准确率和灵敏度都较FNAB、BRAF^(V600E)基因突变检测单独使用的诊断指标高,差异有统计学意义。结论:对于伴有可疑超声征象的甲状腺结节,在行首次或重复FNAB检查的同时联合BRAF^(V600E)基因突变检测,有助于减少BethesdaⅢ和Ⅳ类细胞学的诊断,提高FNAB检查的诊断效能,为甲状腺结节的诊疗提供更可靠的依据。Objective:To evaluate the diagnostic value of BRAF^(V600E) gene mutation detection for the thyroid nodules with indeterminate cytological results(Bethesda Ⅲ and Ⅳ).Methods:This retrospective study included 92 patients with 92 thyroid nodules that were initially diagnosed as indeterminate cytological results,which were repeated examination of fine needle aspiration biopsy(FNAB)cytology and BRAF^(V600E) gene mutation detection between January 2016 and June 2019 were included in this study.Taking the surgical pathological results as the gold standard for the diagnosis of the nature of thyroid nodules,the diagnostic efficiency of FNAB detection,BRAF^(V600E) gene detection and FNAB combined with BRAF^(V600E) gene detection in the pathological diagnosis of thyroid nodules with uncertain cytological results was compared.Results:The histopathological results of 92 thyroid nodules with indeterminate cytological results(Bethesda Ⅲ and Ⅳ)included 38 benign and 54 malignant nodules.Compared with the gold standard based on pathological diagnosis,the correct diagnosis rate,sensitivity,specificity,positive predictive value and negative predictive value of BRAF^(V600E) gene mutation detection were 81.5%,68.5%,100%,100%,69.1% respectively,and of FNAB were 72.8%,70.4%,76.3%,80.9%,64.4%,and of which FNAB combined with BRAF^(V600E) gene mutation detection were 90.2%,92.6%,86.8%,90.9%,89.2% respectively.In the diagnosis of papillary thyroid carcinoma,the accuracy rate and sensitivity of FNAB combined with BRAF^(V600E) gene mutation detection were significantly higher than those of FNAB and BRAF^(V600E) gene mutation detection.Conclusion:For the thyroid nodules with indeterminate cytological results,combined with BRAF^(V600E) gene mutation at the first or repeating FNAB examination can reduce Bethesda Ⅲ and Ⅳ cytological diagnosis,improve the diagnostic efficiency of FNAB examination,and provide a more reliable basis for the diagnosis and treatment of thyroid nodules.

关 键 词：甲状腺结节 超声引导下细针穿刺细胞学检查 BRAF^(V600E)基因 

分 类 号：R736.1[医药卫生—肿瘤]