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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BRAF V600E突变对鉴别甲状腺结节性质的各项诊断指标,分析BR A F 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BRAF V600E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。
Objective To investigate the feasibility of amplification refractory mutation system (ARMS) in detecting BRAF V600E mutation and to evaluate the clinical value of BRAF V600E mutation in differentiating thyroid nodules. Methods ARMS was used to detect and compare the mutation status of 179 cases of papillary thyroid carcinoma (PTC) and 115 cases of thyroid benign lesions. The diagnostic indexes of BRAF V600E mutation in identifying thyroid nodules were analyzed. Correlation between BR AF V600E mutation and clinicopathological features of PTC. Results ARMS method to detect BRAF V600E mutation in thyroid lesions feasible, the results are credible. The mutation rate of BRAF V600E in PTC was 82.68%, while it was only 1.74% in benign tissues. The difference was statistically significant (χ2 = 183.568, P <0.01). The diagnostic sensitivity of BRAF V600E mutation was 82.68%, the specificity was 98.26%, the accuracy was 88.76% and the Youden index was 0.8094. The mutation of BRAF V600E was not related to the gender, age, tumor size, number of lesions, bilateral lesions, extra-gland invasion and lymph node metastasis in PTC patients. Conclusion ARMS detection of BRAF V600E mutation has high diagnostic sensitivity and specificity, which has important clinical diagnostic value for identifying the nature of thyroid nodules.