文章摘要

BRAF-V600E突变检测在B超引导下甲状腺细针穿刺标本中的应用及意义

作者: 1李晓锋, 1刘希, 1汪园园, 1隋艳霞, 1张冠军
1 西安交通大学第一附属医院病理科,西安 710061
通讯: 李晓锋 Email: 15291816606@163.com
DOI: 10.3978/j.issn.2095-6959.2020.02.020
基金: 陕西省国际科技合作与交流计划(2016KW-001,2016KW-009)。

摘要

目的:探讨BRAF-V600E突变对甲状腺良恶性结节鉴别的临床意义。方法:选取2019年1至4月180例患者(192个)甲状腺结节细针穿刺样本进行BRAF-V600E基因突变检测,将BRAF-V600E突变结果、细胞学诊断结果与术后病理诊断结果进行比较,同时分析BRAF-V600E基因突变在甲状腺乳头状癌中的检出率与患者性别、年龄、肿瘤直径、被膜外侵犯和多发病灶等临床病理特征之间的相关性。结果:共126个结节取得明确细胞学或常规病理诊断,其中117个为甲状腺乳头状癌,9个为甲状腺良性结节。73.9%(85/115)的甲状腺乳头状癌BRAF-V600E基因突变阳性,良性甲状腺结节均为阴性。超声引导下的甲状腺结节细针穿刺细胞学检查(fine-needle aspiration,FNA)联合BRAF-V600E突变检测将FNA诊断甲状腺结节敏感性由72.6%提高到86.3%,χ2检验比较提示二者差异有统计学意义(P<0.001)。单因素分析结果显示:BRAF-V600E突变与甲状腺被膜外侵犯相关(χ2=13.943,P<0.001),与性别、年龄、肿瘤直径和多发病灶等临床病理特征之间差异无统计学意义。结论:FNA细胞学检测联合BRAF-V600E突变检测能够提高甲状腺癌的检出率。
关键词: 甲状腺;超声检查;细针;BRAF-V600E基因;突变

Application and significance of the BRAF-V600E mutation in fine-needle aspirations of thyroid nodules

Authors: 1LI Xiaofeng, 1LIU Xi, 1WANG Yuanyuan, 1SUI Yanxia, 1ZHANG Guanjun
1 Department of Pathology, First Affiliated Hospital of Xi’an Jiaotong University, Xi’an 710061, China

CorrespondingAuthor: LI Xiaofeng Email: 15291816606@163.com

Foundation: This work was supported by the International Science and Technology Cooperation and Exchange Plan of Shaanxi Province, China (2016KW-001,2016KW-009)

Abstract

Objective: To evaluate the diagnostic and prognostic value of BRAF-V600E mutation testing in fine-needle aspiration (FNA)of thyroid nodules. Methods: This study included 192 nodules in 180 patients who underwent FNA from January 2019 to April 2019. The BRAF mutation status, clinical and pathology records of the patients were reviewed and the associations between these characteristics and papillary thyroid cancer (PTC) were analyzed. The relations of BRAF-V600E mutation with clinical factors such as sex, age, tumor size and multifocality were also analyzed. Results: A toal of 117 PTC and 9 benign thyroid nodules were included in this study. BRAF-V600E mutations were found in 73.9% PTC (85/115). All benign thyroid nodules had no BRAF-V600E mutation. Biomolecular analysis significantly increased cytology sensitivity for papillary thyroid carcinoma from 72.6% to 86.3% (P<0.001). Univariate analysis indicated the BRAF-V600E mutation was associated with extrathyroidal extension (χ2=13.943, P<0.001), but not with sex, age, tumor size and multifocality. Conclusion: BRAF-V600E mutation may be a potential tool to facilitate ultrasound in diagnosis of PTC.
Keywords: thyroid; ultrasound; fine-needle; BRAF-V600E gene; mutation