FNAC联合BRAF^(V600E)基因突变检测在甲状腺乳头状癌诊断中的价值及临床意义  

Value and clinical significance of FNAC combined with BRAF^(V600E) gene mutation detection in diagnosing papillary thyroid carcinoma

作　　者：周晋星 吴妍 席雷 邹子归 翟博雅 戎荣 ZHOU Jinxing;WU Yan;XI Lei;ZOU Zigui;ZHAI Boya;RONG Rong(Department of Pathology,First Affiliated Hospital of Nanjing Medical University/Jiangsu Province People’s Hospital,Nanjing 210029;Department of Pathology,First Affiliated Hospital of Soochow University,Suzhou 215006,China)

机构地区：[1]南京医科大学第一附属医院,江苏省人民医院病理学部,南京210029 [2]苏州大学附属第一医院病理科,苏州215006

出　　处：《临床与病理杂志》2025年第1期18-24,共7页Journal of Clinical and Pathological Research

摘　　要：目的:甲状腺乳头状癌(papillarythyroid carcinoma,PTC)是甲状腺最常见的恶性肿瘤。本研究旨在评价BRAF^(V600E)基因突变检测联合甲状腺细针穿刺细胞学检查(fine needle aspiration cytology,FNAC)在PTC诊断中的价值,并探讨BRAF^(V600E)基因突变与PTC临床病理特征的相关性。方法:回顾性分析2019年1月至2022年12月同时行甲状腺FNAC和BRAF^(V600E)分子检测且术后组织病理学证实为PTC的2268例患者的临床病理资料,分析BRAF^(V600E)基因突变与临床病理因素的关系,并比较术前FNAC和术后石蜡样本BRAF^(V600E)基因突变检出率的差异。结果:与单纯FNAC或BRAF^(V600E)基因突变检测相比,FNAC检查联合BRAF^(V600E)基因突变检测可提高诊断甲状腺结节的敏感度、阴性预测值和准确度(均P<0.05)。术前FNAC样本与术后组织学石蜡样本BRAF^(V600E)基因突变检出率无明显差异。BRAF^(V600E)基因突变与PTC患者年龄、肿瘤直径≤1cm、组织学亚型为经典型、单侧性、多灶性、无淋巴结转移、无脉管内癌栓和神经侵犯、不合并淋巴细胞性甲状腺炎有关(均P<0.05),与性别、包膜侵犯和T分期无关(均P>0.05)。结论:FNAC联合BRAF^(V600E)基因突变检测可明显提高甲状腺结节诊断的准确度;利用术前FNAC或术后石蜡标本进行BRAF^(V600E)基因突变检测的有效率相近;PTC患者的BRAF^(V600E)基因突变并不能提示PTC患者较差的预后,但BRAF^(V600E)基因突变可作为PTC诊断有效的辅助检查方法。Objective:Papillary thyroid carcinoma(PTC)is the most common malignant tumor of the thyroid.This study aims to evaluate the value of BRAF^(V600E) gene mutation detection combined with fine needle aspiration cytology(FNAC)in the diagnosis of PTC and explore the correlation between BRAF^(V600E) gene mutation and clinical pathological characteristics of PTC.Methods:A retrospective analysis was conducted on the clinical pathological data of 2268 patients who underwent both FNAC and BRAF^(V600E) molecular testing and were confirmed to have PTC by postoperative histopathology from January 2019 to December 2022.The relationship between BRAF^(V600E) gene mutation and clinical pathological factors were analyzed,and the differences in mutation detection rates between preoperative FNAC and postoperative paraffin samples were compared.Results:Compared with FNAC or BRAF^(V600E) gene mutation detection alone,the combination of FNAC and BRAF^(V600E) mutation detection significantly improved the sensitivity,negative predictive value,and accuracy in diagnosing thyroid nodules(all P<0.05).There was no significant difference in the BRAF^(V600E) gene mutation detection rate between preoperative FNAC samples and postoperative paraffin samples.The BRAF^(V600E) gene mutation was associated with the age of PTC patients,tumor size≤1 cm,classic subtype,unilaterality,multifocality,no lymph node metastasis,no tumor thrombus in the vascular vein or neural invasion,and the absence of lymphocytic thyroiditis(all P<0.05),but was not associated with gender,capsular invasion,or T stage(all P>0.05).Conclusion:The combination of FNAC and BRAF^(V600E) gene mutation detection can significantly improve the diagnostic accuracy of thyroid nodules.The mutation detection efficiency is similar whether preoperative FNAC or postoperative paraffin samples are used.The BRAF^(V600E) mutation does not indicate a poorer prognosis for PTC patients,but it can serve as an effective adjunctive examination method for diagnosing PTC.

关 键 词：BRAFV600E基因 细针穿刺细胞学检查 甲状腺 乳头状癌 超声引导 

分 类 号：R736.1[医药卫生—肿瘤]