细针穿刺细胞学检查以及BRAF、RAS基因突变筛查对甲状腺癌的诊断价值分析  

Analysis of the diagnostic value of fine-needle aspiration cytology and BRAF and RAS gene mutation screening for thyroid cancer

作　　者：张维[1] 刘蕾[1] 管绍羊 盛昭 孙雯雯[2] ZHANG Wei;LIU Lei;GUAN Shaoyang;SHENG Zhao;SUN Wenwen(Wuhu Hospital,East China Normal University,Wuhu Second People's Hospital,Department of Endocrinology,Wuhu 241000,Anhui,China;Wuhu Hospital,East China Normal University,Wuhu Second People's Hospital,Department of Pathology,Wuhu 241000,Anhui,China)

机构地区：[1]华东师范大学附属芜湖医院,芜湖市第二人民医院内分泌科,安徽芜湖241000 [2]华东师范大学附属芜湖医院,芜湖市第二人民医院病理科,安徽芜湖241000

出　　处：《中国临床药理学与治疗学》2023年第6期653-657,共5页Chinese Journal of Clinical Pharmacology and Therapeutics

基　　金：华东师范大学医学健康联合培育基金(2022JKXYD09002)。

摘　　要：目的:评估甲状腺细针穿刺细胞学检查(FNAC)以及BRAF、RAS基因突变筛查对甲状腺癌的诊断价值。方法:回顾性分析2022年1月至2022年12月,在本院门诊或住院行FNAC的甲状腺结节患者共计597例,其中25例因标本不满意予以剔除,282例患者进行了BRAF/RAS基因检测,227例进行了手术治疗。以术后病理结果为金标准,分析FNAC、BRAF、RAS,以及联合检测诊断甲状腺癌的敏感性、特异性和诊断准确率。结果:分析FNAC诊断为非典型病变、且术后病理为甲状腺恶性肿瘤的患者,BRAF/RAS基因的阳性率为42.9%,其中超声TI-RADS分类4B以上的亚组,BRAF的阳性率69.2%,但差异无统计学意义(P=0.116)。单独应用FNAC对甲状腺癌的敏感性为82.8%、特异性为100.0%,联合BRAF基因检测,其敏感性可提高到89.3%、特异性为96.6%,诊断的准确率由82.8%提升到85.9%。结论:在甲状腺结节患者中,通过超声TI-RADS分类筛查出高危患者(尤其是4B及以上的),联合FNAC和BRAF基因检测,可提高甲状腺癌的诊断率。AIM:To evaluate the diagnostic value of thyroid fine needle aspiration cytology(FNAC)and BRAF and RAS gene mutation screening for thyroid cancer.METHODS:From January 2022 to December 2022,a total of 597 patients underwent FNAC in our hospital,of which 25 patients were removed due to specimen dissatisfaction,282 patients had BRAF/RAS genetic testing,and 227 patients underwent surgery.Using postoperative pathological results as the gold standard to analyze the sensitivity,specificity and diagnostic accuracy of FNAC,BRAF/RAS and their combined detection in the diagnosis of thyroid cancer.RESULTS:For patients with FNAC and postoperative thyroid malignancy,the positive rate of BRAF/RAS gene was 42.9%,and the positive rate of BRAF in TI-RADS above 4B was 69.2%,but the difference was not significant(P=0.116).The sensitivity of FNAC alone for thyroid cancer was 82.8%and specificity was 100.0%.Combined with BRAF gene detection,the sensitivity was improved to 89.3%,specificity was 96.6%,and the accuracy of diagnosis increased from 82.8%to 85.9%.CONCLUSION:In patients with thyroid nodules,high-risk patients(especially 4B and above)were screened by ultrasound TIRADS classification,and combined FNAC and BRAF gene testing can improve the diagnostic rate of thyroid cancer.

关 键 词：甲状腺结节 细针穿刺细胞学检查 BRAF RAS TI-RADS分类 

分 类 号：R736.1[医药卫生—肿瘤] R968[医药卫生—临床医学]