目的 探讨超声（ultrasound，US）、细针穿刺细胞学（fine⁃needle aspiration cytology，FNAC）、 BRAFV600E 基因以及联合诊断方法在甲状腺结节中的诊断价值。方法 选取经 US 检查同时行 FNAC、 BRAFV600E基因并且有术后病理的 512 例甲状腺结节病例资料；构建 ROC 曲线，比较 ROC 曲线 AUC 和各诊 断方法的敏感性、特异性、阳性预测值和阴性预测值，分析不同诊断方法的应用价值。结果 512 例甲状腺结节中，经术后证实良性结节61例，恶性结节451例，US 诊断甲状腺恶性肿瘤的敏感性和特异性分别为 83.59%和 80.33%；FNAC 分别为 91.13%和 98.36%；BRAFV600E分别为 95.79%和 96.72%；FNAC 联合 BRAFV600E 分别为98.45%和96.72%；两者联合诊断优于单独US（χ2 = 21.081，P＜0.001），亦优于单独FNAC（χ2 = 8.311， P = 0.004），差异均有统计学意义。结论 FNAC 联合BRAFV600E 可提高术前甲状腺良恶性结节的诊断率。

Objective To investigate the values of ultrasound（US），fine ⁃ needle aspiration cytology （FNAC）and BRAFV600E mutation detection alone or combined in the diagnosis of thyroid nodules. Methods A total of 512 cases of thyroid nodules in the first affiliated hospital of Nanjing Medical University from January 2015 to December 2018 were reviewed and all the cases were received US，FNAC and BRAFV600E mutation detection and pathological diagnosis after surgery. The receiver operating characteristic curve（ROC）was draw with pathological diagnosis after surgery being the gold standard. The sensitivity，specificity，positive predictive values，negative predictive values，the optimum cutoff values and the area under curve（AUC）of each diagnostic method were calculated and compared. The diagnostic values of each method alone or combined were analyzed. Results Among the 512 cases of thyroid nodules，61 were confirmed benign nodules after surgery and 451 malignant. The sensitivity and specificity of US were 83.59% and 80.33%. The corresponding data for FNAC were 91.13% and 98.36%. The corresponding data for BRAFV600E were 95.79% and 96.72% . The corresponding data for FNAC combined with BRAFV600E were 98.45% and 96.72%. FNAC combined with BRAFV600E had a statistically different diagnostic efficiency from that of both US（χ2 = 21.081，P＜0.001）and FNAC（χ2 = 8.311，P = 0.004）alone. Conclusion FNAC com⁃ bined with BRAFV600E mutation detection can improve the diagnosis of thyroid nodules before surgery.