449例甲状腺结节细针穿刺活检患者BRAF(V600E)基因突变情况分析  

BRAF(V600E)gene mutation in 449 patients with thyroid nodules by fine needle puncture biopsy

作　　者：许惠娟 孙琦 刘坤 罗瑞晨 黄莹 陈桓 侯君 Xu Huijuan;Sun Qi;Liu Kun;Luo Ruichen;Chen Huan;Huang Ying;Hou Jun(Department of Pathology,Zhongshan Hospital,Fudan University(Xiamen Branch),Fujian,Xiamen 361015,China;Clinical Research Center for Precision medicine of abdominal tumor of Fujian Province,Fujian,Xiamen 361015,China)

机构地区：[1]复旦大学附属中山医院厦门医院病理科,福建厦门361015 [2]福建省腹部肿瘤精准诊疗临床医学研究中心,福建厦门361015

出　　处：《青岛医药卫生》2024年第6期433-437,共5页Qingdao Medical Journal

基　　金：院级孵化课题(2020ZSXMYJ01);厦门市科技计划项目(3502Z20224ZD1089,3502Z20244ZD1125);福建省卫生健康青年科研课题(2023QNB011)。

摘　　要：目的分析甲状腺结节细针穿刺活检患者BRAF(V600E)基因突变情况,进一步了解甲状腺细针穿刺细胞学检查、BRAF联合检测诊断结节良恶性的应用价值。方法收集2022年1月至2024年5月在复旦大学附属中山医院厦门医院门诊或住院行细针穿刺细胞学检查的499例甲状腺结节患者资料,采用ARMS-PCR(Amplification Refractory Mutation System PCR,ARMS-PCR)方法检测BRAF基因,分析499例患者的BRAF(V600E)突变情况。结果经检测后449例患者中有255例患者BRAF(V600E)突变检测结果为阳性,总体阳性率为56.79%。其中男性患者阳性率为71.82%,女性患者阳性率为54.57%。255例BRAF(V600E)突变阳性患者中,细胞病理学结果明确恶性肿瘤诊出率为54.12%,30.20%为可疑恶性肿瘤,13.33%的BRAF(V600E)突变阳性患者为意义不明确的非典型性病变或意义不明确的滤泡性病变,1.57%标本无法诊断或不满意;滤泡性肿瘤/可疑滤泡性肿瘤或者良性病变的患者占比均为0.39%。研究中有170例在本院进行了手术治疗,BRAF(V600E)突变阳性结节穿刺患者术后病理检查,病理学类型均为乳头状癌,特异度为100%。结论BRAF(V600E)基因检测对甲状腺结节良恶性的诊断有较高的辅助作用,对细针穿刺细胞学检查进行补充,两者联合可提高甲状腺结节的恶性检出率,从而帮助患者制定更为精准的治疗方案。Objective To study BRAF gene mutation in patiens with fine needle aspiration(FNA),and the clinical value of fine needle aspiration-combined with BRAF V600E gene detection in diagnosing the thyroid and BRAF combined detection in diagnosing the benign and malignant nature of nodules.Methods The date of499 patients with thyroid nodules performed cytological test by FNA in Zhongshan Hospital,Fudan University(Xiamen Branch)from January 2022 to May 2024 were collected.The BRAF gene was detected by real-time fluorescence quantitative PCR,and the BRAF(V600E)mutation was analyzed in 499 patients.Results Out of 449 patients,255 tested positive for the BRAF(V600E)mutation,resulting in an overall positivity rate of 56.79%.Among them,the positivity rate among male patients was 71.82%,while that among female patients was 54.57%.Within the cohort of 255 BRAF(V600E)mutation-positive patients,cytology examination indicated malignant tumors in 54.12%of cases,Suspicious for malignancys in 30.20%of cases,and Atypia of undetermined significance in 13.33%of cases.Additionally,1.57%of specimens were either Nondiagnostic;only a small proportion(0.39%)exhibited in Patients with follicular tumors/suspected follicular tumors or benign lesions.In this study,170 patients was administered surgical treatment at our hospital.The postoperative path-ological examination of BRAF(V600E)mutation-positive nodular puncture patients showed that the specific pathological type was papillary carcinoma,and the specificity was 100%.Conclusions BRAF(V600E)mutation detection plays a crucial role in in diagnosing the benign and malig-nant nature of nodules,complementing fine-needle aspiration cytology examination.The combi-nation of these two methods can significantly improve the diagnostic specificity against benign and malignant thyroid nodules,thereby help patients develop a more precise treatment plan.

关 键 词：BRAF基因 细针穿刺活检 甲状腺结节 

分 类 号：R737.33[医药卫生—肿瘤]