天津医药

天津医药 ›› 2025, Vol. 53 ›› Issue (9): 972-975.doi: 10.11958/20241258

• 临床研究 • 上一篇    下一篇

甲状腺结节细针穿刺细胞学联合BRAF基因检测在甲状腺良恶性肿瘤鉴别诊断中的应用价值

杨桃(), 全艳△(), 张加孟, 谢清耘, 黄麟洲   

  1. 巴中市中心医院超声科（邮编636000）
  • 收稿日期:2025-01-05 修回日期:2025-05-13 出版日期:2025-09-15 发布日期:2025-09-16
  • 通讯作者: △E-mail：15828907778@163.com
  • 作者简介:杨桃（1987），男，主治医师，主要从事超声诊断、超声介入方面研究。E-mail：xsap20230607@163.com

Application value of thyroid nodule fine needle aspiration cytology combined with BRAF gene detection in the differential diagnosis of benign and malignant thyroid tumors

YANG Tao(), QUAN Yan△(), ZHANG Jiameng, XIE Qingyun, HUANG Linzhou   

  1. Department of Ultrasound, Bazhong Central Hospital, Bazhong 636000, China
  • Received:2025-01-05 Revised:2025-05-13 Published:2025-09-15 Online:2025-09-16
  • Contact: △E-mail: 15828907778@163.com

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摘要：

目的 探讨甲状腺结节细针穿刺细胞学（FNAC）联合B-Raf原癌基因丝氨酸/苏氨酸蛋白激酶（BRAF）基因检测对甲状腺良恶性肿瘤的鉴别诊断价值。方法 纳入198例甲状腺结节患者并根据其病理检查结果分为良性病变组（107例）和恶性病变组（91例），患者均行超声引导下FNAC检查，并采用实时荧光定量聚合酶链反应检测BRAF基因表达。Kappa一致性检验和受试者工作特征（ROC）曲线分析FNAC、BRAF基因检测以及二者联合对甲状腺良恶性肿瘤的鉴别诊断价值。结果 恶性病变组结节位置以包膜下居多，良性病变组则以腺体内居多（P<0.05）。FNAC结果：BethesdaⅡ类62例、Ⅲ类26例、Ⅳ类29例、Ⅴ类14例、Ⅵ类67例。FNAC、BRAF基因检测以及二者联合与病理诊断阳性率差异均有统计学意义（P<0.05）。FNAC联合BRAF基因检测鉴别甲状腺肿瘤良恶性的ROC曲线下面积（AUC）为0.871（95%CI：0.816~0.914），敏感度为90.11%，特异度为84.11%，Kappa值为0.737；FNAC诊断的AUC为0.833（95%CI：0.774~0.882），敏感度为76.92%，特异度为89.72%，Kappa值为0.672；BRAF基因检测的AUC为0.829（95%CI：0.770~0.879），敏感度为78.02%，特异度为87.85%，Kappa值为0.663。结论 FNAC联合BRAF基因检测可提高对甲状腺良恶性病变的鉴别诊断效能，尤其提高了诊断敏感度。

关键词: 甲状腺肿瘤, 超声检查, 活组织检查, 细针, 原癌基因蛋白质B-raf

Abstract:

Objective To explore the value of thyroid nodule fine needle aspiration cytology (FNAC) combined with B-Raf proto-oncogene, serine/threonine kinase (BRAF) gene detection in the differential diagnosis of benign and malignant thyroid tumors. Methods According to the results of pathological examination, 198 patients with thyroid nodules were divided into the benign lesion group (n=107) and the malignant lesion group (n=91). All patients underwent ultrasound-guided FNAC, and expression of BRAF gene was detected by real-time fluorescence quantitative polymerase chain reaction. The value of FNAC, BRAF gene detection and combined detection in the differential diagnosis of benign and malignant thyroid tumors was analyzed by Kappa consistency test and receiver operating characteristic (ROC) curves. Results The nodules were mostly under envelope in the malignant lesion group, while in the benign lesion group, which were mostly located within glands (P<0.05). FNAC results showed that 62 cases with type II Bethesda, 26 cases with type III Bethesda, 29 cases with type IV Bethesda, 14 cases with type V Bethesda and 67 cases with type VI Bethesda. There were significant differences in diagnostic positive rates between FNAC, BRAF gene detection, combined detection and pathological examination (P<0.05). The area under ROC curve (AUC) of FNAC combined with BRAF gene detection for differentiating benign and malignant thyroid tumors was 0.871 (95%CI：0.816-0.914), sensitivity was 90.11%, specificity was 84.11% and Kappa value was 0.737. The AUC of FNAC diagnosis was 0.833 (95%CI: 0.774-0.882), sensitivity was 76.92%, specificity was 89.72% and Kappa value was 0.672. The AUC of BRAF gene detection was 0.829（95%CI：0.770-0.879), sensitivity was 78.02%, specificity was 87.85% and Kappa value was 0.663. Conclusion FNAC combined with BRAF gene detection can improve differential diagnosis efficiency for benign and malignant thyroid lesions, especially enhancing the diagnostic sensitivity.

Key words: thyroid tumor, ultrasonography, biopsy, fine-needle, proto-oncogene proteins B-raf

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