BRAF V600E基因检测联合FNAC对甲状腺乳头状癌的诊断价值  

Diagnostic Value of BRAF V600E Gene Detection Combined with FNAC for Papillary Thyroid Carcinoma

作　　者：侯超越 秦华东[1] 石臣磊[1] 石铁锋[1] 马艳飞[1] HOU Chaoyue;QIN Huadong;SHI Chenlei;SHI Tiefeng;MA Yanfei(Department of Thyroid Surgery,the Second Affiliated Hospital of Harbin Medical University,Harbin 150001,China)

机构地区：[1]哈尔滨医科大学附属第二医院甲状腺外科,哈尔滨150001

出　　处：《医学综述》2022年第20期4150-4154,F0003,共6页Medical Recapitulate

摘　　要：目的探讨BRAF V600E基因检测联合细针穿刺细胞学检查(FNAC)对甲状腺乳头状癌(PTC)的诊断价值。方法回顾性分析2019年10月至2021年1月哈尔滨医科大学附属第二医院甲状腺外科收治的173例行BRAF V600E基因检测及FNAC并行手术治疗的术前诊断为甲状腺肿物患者的临床病理资料。研究BRAF V600E基因检测联合FNAC对PTC的诊断价值。结果术后病理检查结果显示,PTC 135例,非恶性肿瘤38例(包括37例甲状腺良性结节样本及1例病理结果为恶性潜能未定的滤泡性肿瘤的样本)。FNAC结果显示,BethesdaⅠ类细胞20例、Ⅱ类细胞12例、Ⅲ类细胞49例、Ⅳ类细胞0例、Ⅴ类细胞84例、Ⅵ类细胞8例。BRAF V600E基因突变检查结果显示,BRAF V600E基因突变阳性(突变型)90例、BRAF V600E基因突变阴性(野生型)83例。BRAF V600E基因检测诊断PTC的灵敏度、特异度、准确度、阳性预测值、阴性预测值分别为66.67%、100.00%、73.99%、100.00%、45.78%。FNAC诊断PTC的灵敏度、特异度、准确度、阳性预测值、阴性预测值分别为67.41%、97.37%、73.99%、98.91%、45.68%。BRAF V600E基因检测联合FNAC诊断PTC的灵敏度、特异度、准确度、阳性预测值、阴性预测值分别为100.00%、97.37%、99.42%、99.26%、100.00%。根据BRAF V600E基因检测结果,将术后病理结果为PTC的135例患者分为BRAF V600E基因突变阳性组(突变型,90例)及BRAF V600E基因突变阴性组(野生型,45例)。BRAF V600E基因突变阳性组腺体被膜侵及、腺外侵及、中央区淋巴结转移和侧区淋巴结转移占比均高于BRAF V600E基因突变阴性组[62.2%(56/90)比37.8%(17/45)、30.0%(27/90)比8.9%(4/45)、42.2%(38/90)比24.4%(11/45)、/8.9%(8/90)比0](P<0.05)。结论BRAF V600E基因检测联合FNAC可提高术前PTC的诊断率,且BRAF V600E基因突变与PTC的不良肿瘤临床病理特征有关。Objective To evaluate the diagnostic value of BRAF V600E gene detection combined with fine needle aspiration cytology(FNAC)for papillary thyroid carcinoma(PTC).Methods The clinicopathological data of 173 patients with thyroid nodule processed by BRAF V600E gene detection,FNAC and surgical treatment in the Department of Thyroid Surgery of the Second Affiliated Hospital of Harbin Medical University from Oct.2019 to Jan.2021 was retrospectively analyzed.The diagnostic value of BRAF V600E gene detection combined with FNAC for thyroid papillary carcinoma was studied.Results Postoperative pathological examination showed 135 cases of PTC and 38 cases of non-malignant tumors(including 37 samples of benign thyroid nodules and 1 sample of follicular tumor with undetermined malignant potential).FNAC results showed that there were 20 cases of Bethesda classⅠcells,12 cases of classⅡcells,49 cases of classⅢcells,0 case of classⅣcells,84 cases of classⅤcells,and 8 cases of classⅥcells.The results of BRAF V600E gene mutation examination showed that there were 90 cases of BRAF V600E gene mutation positive(mutant type)and 83 cases of BRAF V600E gene mutation negative(wild type).The sensitivity,specificity,accuracy,positive predictive value and negative predictive value of BRAF V600E gene detection in the diagnosis of PTC were 66.67%,100.00%,73.99%,100.00%and 45.78%respectively.The sensitivity,specificity,accuracy,positive predictive value and negative predictive value of FNAC in diagnosing PTC were 67.41%,97.37%,73.99%,98.91%and 45.68%respectively.The sensitivity,specificity,accuracy,positive predictive value and negative predictive value of BRAF V600E gene detection combined with FNAC in the diagnosis of PTC were 100.00%,97.37%,99.42%,99.26%and 100.00%respectively.According to the results of BRAF V600E gene detection,135 patients with PTC after surgery were divided into a BRAF V600E gene mutation positive group(mutant type,90 cases)and a BRAF V600E gene mutation negative group(wild type,45 cases).The proportions of gl

关 键 词：甲状腺乳头状癌 细针穿刺 BRAF V600E基因检测 

分 类 号：R736.1[医药卫生—肿瘤]