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中国临床药理学与治疗学 ›› 2023, Vol. 28 ›› Issue (6): 653-657.doi: 10.12092/j.issn.1009-2501.2023.06.007

• 临床药理学 • 上一篇    下一篇

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

张 维1,刘 蕾1,管绍羊1,盛 昭1,孙雯雯2   

  1. 华东师范大学附属芜湖医院,芜湖市第二人民医院,1内分泌科,2病理科,芜湖  241000,安徽
  • 收稿日期:2023-03-16 修回日期:2023-04-05 出版日期:2023-06-26 发布日期:2023-07-12
  • 通讯作者: 张维,女,博士,副主任医师,硕士生导师,研究方向:糖尿病的分型诊断与精准治疗,甲状腺疾病的诊治。 E-mail:2609432834@qq.com
  • 作者简介:张维,女,博士,副主任医师,硕士生导师,研究方向:糖尿病的分型诊断与精准治疗,甲状腺疾病的诊治。 E-mail:2609432834@qq.com
  • 基金资助:
    华东师范大学医学健康联合培育基金(2022JKXYD09002)

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

ZHANG Wei1, LIU Lei1, GUAN Shaoyang1, SHENG Zhao1, SUN Wenwen2   

  1. 1Wuhu Hospital, East China Normal University, Wuhu Second People's Hospital; Department of Endocrinology, 2Department of Pathology, Wuhu 241000, Anhui, China
  • Received:2023-03-16 Revised:2023-04-05 Online:2023-06-26 Published:2023-07-12

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。

关键词: 甲状腺结节, 细针穿刺细胞学检查, BRAF, RAS, TI-RADS分类

Abstract:

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 TI-RADS classification, and combined FNAC and BRAF gene testing can improve the diagnostic rate of thyroid cancer.

Key words: thyroid nodules, fine-needle aspiration cytology (FNAC), BRAF, RAS, thyroid imaging reporting and data system (TI-RADS) classification

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