中国耳鼻咽喉颅底外科杂志2017，Vol.24Issue(2)：71-75,5.DOI:10.16066/j.1672-7002.2017.02.005
基于ARMS法检测BRAF V600E突变在甲状腺乳头状癌中的临床价值
Clinical significance of detection for mutated BRAF gene in thyroid nodules based on amplification refractory mutation system
摘要
Abstract
OBJECTIVE To explore the feasibility of detection for mutated BRAF V600E gene based on amplification refractory mutation system(ARMS), and to evaluate its clinical significance of BRAF V600E gene mutation in thyroid nodules.METHODS The method of ARMS was used to detect BRAF V600E mutation status in 179 patients with PTC and 115 patients with benign lesions. The diagnosis index of BRAF V600E mutation status for identifying the nature of the thyroid nodule was calculated. The potential correlation between BRAF V600E mutation and PTC clinicpathological characteristics was also analyzed.RESULTS Detection of BRAF V600E mutation status in thyroid lesions based on ARMS was feasible and believable.The positive rate of mutated BRAF V600E gene in PTC was 82.68%,whereas the rate in benign lesions was only 1.74%,indicating statistical differences between the two groups(χ2=183.568,P<0.01). The diagnostic sensitivity of BRAF V600E mutation was 82.68%, specificity was 98.26%, accuracy was 88.76%, and Youden index was 0.8094. There was no associations between the BRAF V600E mutation status and PTC clinicpathological characteristics(eg. gender, age, tumor size, numbers of lesions, bilateral lesions, extrathyroidal extension and lymph node metastasis).CONCLUSION Detection of BRAF V600E mutation based on ARMS has higher sensitivity and specificity in distinguishing PTC from benign lesions, indicating BRAF V600E gene is an ideal marker of PTC for clinical early diagnosis.关键词
甲状腺肿瘤/诊断/突变/扩增阻滞突变系统/BRAF基因Key words
Thyroid Neoplasms/Diagnosis/Mutation/amplification refractory mutation system/BRAF gene引用本文复制引用
丁金旺,潘钢,叶柳青,罗定存,荀延萍,王炜,徐骁诚,周荣璟,姜燕平,徐益平,张卧..基于ARMS法检测BRAF V600E突变在甲状腺乳头状癌中的临床价值[J].中国耳鼻咽喉颅底外科杂志,2017,24(2):71-75,5.基金项目
浙江省公益技术应用研究项目(2017C33180)、浙江省医药卫生科技计划项目(2014KYB203)、杭州市重大科技创新专项项目(20131813A08)、杭州市医药卫生科技计划项目(2012B004)和杭州市科技计划项目(20160533B05)联合资助 （2017C33180）
