细针穿刺标本BRAF V600E基因突变预测甲状腺乳头状癌的准确信度研究

The predictive accuracy of fine needle aspiration and BRAF V600E mutation in diagnosis of papillary thyroid carcinoma

目的评估细针穿刺检测到甲状腺结节BRAFV600E基因突变阳性预测甲状腺乳头状癌的准确性。方法回顾性分析2016年9月至2018年5月于浙江大学医学院附属第二医院甲状腺外科接受细针穿刺活检并应用突变特异性扩增系统(ARMS)法检测到甲状腺结节BRAFV600E基因突变阳性,且选择手术治疗的93例患者资料。男性21例,女性72例,年龄(43.2±11.3)岁(范围:19~67岁)。记录其细胞学诊断、术中冰冻和术后病理学结果,统计分析BRAFV600E基因突变阳性预测甲状腺乳头状癌的准确性。结果93例术前穿刺检测到BRAFV600E基因突变阳性的患者中,91例术后诊断为甲状腺乳头状癌,总体准确率为97.8%。依据Bethesda分类进行亚组分析,其预测准确率分别为:Ⅰ类6/6,Ⅱ类0/0,Ⅲ类16/17,Ⅳ类97.2%(35/36),Ⅴ类100%(28/28),Ⅵ类6/6。结论应用ARMS法检测到BRAFV600E基因突变阳性对预测甲状腺乳头状癌有较高的准确率。

Objective To evaluate the predictive accuracy of fine needle aspiration(FNA)and BRAF V600E mutation in distinguishing papillary thyroid carcinoma and other thyroid nodules.MethodsThis retrospective cohort study included 93 patients with papillary thyroid carcinoma who treated at Department of Thyroid Surgery,the Second Affiliated Hospital of Zhejiang University,College of Medicine from September 2016 to May 2018.There were 21 males and 72 females with age of(43.2±11.3)years(range:19 to 67 years).All the patients got the examinations of FNA and BRAF V600E mutation by Amplification Refractory Mutation System,and subsequently underwent thyroid surgeries.The results of cytopathology,frozen section and pathology were collected and analyzed.The predictive accuracy of FNA cytology and BRAF V600E mutation was calculated.Results In the 93 collected cases,91 were diagnosed as papillary thyroid carcinoma postoperation,and the accurate predictive rate was 97.8%.Subgroup analysis was performed according to Bethesda System,the predictive rates were:unsatisfactory(Ⅰ)6/6,benign(Ⅱ)0/0,atypia of undetermined significance or follicular lesion of undetermined significance(Ⅲ)16/17,follicular neoplasm or suspicious for follicular neoplasm(Ⅳ)97.2%(35/36),suspicious for malignancy(Ⅴ)100%(28/28),and malignant(Ⅵ)6/6,respectively.ConclusionThyroid nodules with BRAF V600E mutation can be strongly speculated as papillary thyroid carcinoma.