基于ARMS法检测BRAF V600E突变在甲状腺乳头状癌中的临床价值

目的　探讨扩增阻滞突变系统（amplification refractory mutation system，ARMS）法检测BRAF V600E突变的可行性，并评估BRAF V600E突变对鉴别甲状腺结节性质的临床价值。方法　采用ARMS法检测并比较179例甲状腺乳头状癌（papillary thyroid carcinoma，PTC）和115例甲状腺良性病变组织的BRAF V600E突变状态，计算BRAFV600E突变对鉴别甲状腺结节性质的各项诊断指标，分析BRAF V600E突变与PTC临床病理特征的相关性。结果  ARMS法检测甲状腺病灶组织中的BRAF V600E突变方法可行，结果可信。BRAF V600E在PTC中的突变率为82.68%，而在良性组织中的突变率仅为1.74%，两者差异有统计学意义（χ2=183.568，P <0.01）。利用BRAF V600E突变判定甲状腺结节性质的诊断敏感度为82.68%，特异度为98.26%，准确度为88.76%，约登指数为0.8094。BRAF V600E突变与PTC患者的性别、年龄、肿瘤大小、病灶数目、双侧病灶、腺外侵犯以及淋巴结转移等因素无关。结论　ARMS法检测BRAFV600E突变具有较高的诊断敏感度和特异度，其对鉴别甲状腺结节的性质具有重要的临床早期诊断价值。

Clinical significance of detection for mutated BRAF gene in thyroid nodules based on amplification refractory mutation system

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(x2=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.