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目的:探讨甲状腺彩超、BRAF基因突变、超声造影及超声引导下细针穿刺(FNA)单用及联合对甲状腺结节良恶性诊断的效果。方法:选取2014年10月至2017年1月北京大学深圳医院内分泌科、特诊科、甲乳外科收治的108例甲状腺结节患者，男35例，女73例，年龄(38.1±11.3)岁，年龄范围为18～69岁。采用彩超、BRAF基因突变、超声造影及FNA对其良恶性进行诊断，以术后病理结果为诊断标准，计算每种方法单用及联合使用的诊断准确率、灵敏度和阳性预测值。结果:彩超准确率为55.65%，灵敏度为86.95%，阳性预测值为88.24%；BRAF基因突变准确率为67.83%，灵敏度为63.27%，阳性预测值为98.41%；超声造影准确率为84.35%，灵敏度为91.84%，阳性预测值为90.00%；FNA准确率为94.78%，灵敏度为95.92%，阳性预测值为97.92%；超声造影联合FNA准确率为88.70%，灵敏度为97.96%，阳性预测值为89.72%；BRAF基因突变联合FNA准确率为95.65%，灵敏度为97.96%，阳性预测值为96.97%；超声造影、BRAF基因突变联合FNA准确率为88.70%，灵敏度为97.96%，阳性预测值为89.72%。结论:综合诊断准确率、灵敏度和阳性预测值，FNA为最优的诊断方法，超声造影次之，BRAF基因突变稍差，彩超最差；超声造影联合FNA、BRAF基因突变联合FNA或者超声造影、FNA与BRAF基因突变三者联合不能增加诊断效果。“,”Objective:To investigate the diagnostic efficiency of ultrasound, BRAF gene mutation, contrast-enhanced ultrasound(CEUS)and fine needle aspiration(FNA)single use and combination in diagnosis of benign and malignant thyroid nodules.Methods:A retrospective study was performed on 108 cases of patients with thyroid nodules who were admitted in the department of Endocrinology, department of Special Diagnosis and department of Thyroid and Breast Surgery of Peking University Shenzhen Hospital from October 2014 to January 2017.There were 35 males and 73 females, aged(38.1±11.3)years old, ranging from 18 to 69 years old.Ultrasound, BRAF gene mutation, contrast-enhanced ultrasound and FNA were used to diagnose the benign and malignant.The diagnostic accuracy, sensitivity and positive predictive values of each method were calculated based on the postoperative pathological results.Results:The accuracy of ultrasound was 55.65%, the sensitivity was 86.95%, and the positive predictive value was 88.24%.The mutation accuracy of BRAF gene was 67.83%, the sensitivity was 63.27%, and the positive predictive value was 98.41%.The accuracy of CEUS was 84.35%, the sensitivity was 91.84%, and the positive predictive value was 90.00%.The accuracy of FNA was 94.78%, the sensitivity was 95.92%, and the positive predictive value was 97.92%.The accuracy of CEUS combined with FNA was 88.70%, the sensitivity was 97.96%, and the positive predictive value was 89.72%.The accuracy of BRAF gene mutation combined with FNA was 95.65%, the sensitivity was 97.96%, and the positive predictive value was 96.97%.The accuracy and sensitivity of the combination of contrast-enhanced ultrasound and BRAF gene mutation with FNA were 88.70%, 97.96%, and the positive predictive value was 89.72%.Conclusion:According to the comprehensive diagnostic accuracy, sensitivity and positive predictive value, FNA is the best diagnostic method, followed by CEUS, BRAF gene mutation is slightly worse, and ultrasound is the worst.Contrast-enhanced ultrasound combining with FNA and BRAF gene mutation or contrast-enhanced ultrasound combining with FNA and BRAF gene mutation do not increase the diagnostic effect.