目的 探讨中国甲状腺影像报告和数据系统（C-TIRADS）与BRAF V600E基因检测联合应用在鉴别不同大小的甲状腺细胞病理学Bethesda报告系统（BSRTC）Ⅲ类结节良恶性诊断中的预测价值。方法 回顾性分析郑州大学第一附属医院2020年3月至2023年11月期间甲状腺细针穿刺活检（FNA）诊断结果为BSRTC Ⅲ类结节的161例病人（共161个结节）的临床资料。根据甲状腺结节的最大径分为≤10 mm组（n=125）和＞10 mm组（n=36）。以手术病理学检查结果为金标准，绘制受试者工作特征曲线（ROC），比较C-TIRADS、BRAF V600E基因检测及二者联合对不同大小的BSRTC Ⅲ类结节的诊断效能。结果 术后病理学检查结果显示，其中108个结节为恶性，53个结节为良性。最大径≤10 mm组中，C-TIRADS的敏感度、特异度、准确率分别为72.6%、86.7%、76.0%；BRAF V600E基因检测的敏感度、特异度、准确率分别为79.0%、100.0%、84.0%；联合诊断的敏感度、特异度、准确率分别为91.6%、86.7%、90.4%；与单独应用C-TIRADS和BRAF V600E基因检测相比，联合诊断的敏感度（P＜0.001，P＝0.002）和准确率（P＜0.001，P＜0.001）均显著提高，且联合诊断的诊断效能优于单纯应用C-TIRADS分类（0.944 vs. 0.796，P＝0.003）。最大径＞10 mm组中，C-TIRADS的敏感度、特异度、准确率分别为84.6%、91.3%、88.9%；BRAF V600E基因检测诊断的敏感度、特异度、准确率分别为61.5%、100.0%、86.1%；联合诊断的敏感度、特异度、准确率分别为84.6%、91.3%、88.9%。联合诊断与C-TIRADS及BRAF V600E基因检测的诊断效能差异均无统计学意义（P＞0.05）。结论 C-TIRADS联合BRAF V600E基因检测对最大径≤10 mm的BSRTC Ⅲ类结节具有更好的诊断效能，有助于提高诊断微小BSRTC Ⅲ类结节的准确率。
Abstract
To evaluate the diagnostic value of the Chinese Thyroid Imaging Reporting and Data System (C-TIRADS) combined with BRAF V600E mutation testing in differentiating benign and malignant Bethesda System for Reporting Thyroid Cytopathology (BSRTC) category Ⅲ nodules of different sizes. Methods A retrospective analysis was performed on the clinical data of 161 patients (161 nodules) diagnosed as BSRTC category Ⅲ by fine-needle aspiration (FNA) at The First Affiliated Hospital of Zhengzhou University between March 2020 and November 2023. According to the maximum diameter, patients were divided into a ≤10 mm group (n=125) and a >10 mm group (n=36). Postoperative histopathology was used as the gold standard. Receiver operating characteristic (ROC) curves were plotted to compare the diagnostic performance of C-TIRADS, BRAF V600E testing, and their combination for BSRTC category Ⅲ nodules of different sizes. Results Postoperative pathology revealed 108 malignant and 53 benign nodules. In the ≤10 mm group, the sensitivity, specificity, and accuracy of C-TIRADS were 72.6%, 86.7%, and 76.0%, respectively; those of BRAF V600E testing were 79.0%, 100.0%, and 84.0%, respectively; and those of the combined method were 91.6%, 86.7%, and 90.4%, respectively. Compared with C-TIRADS or BRAF V600E testing alone, the combined method significantly improved sensitivity (P<0.001, P=0.002) and accuracy (P<0.001, P<0.001), and its diagnostic efficacy was superior to C-TIRADS alone (AUC: 0.944 vs. 0.796, P=0.003). In the >10 mm group, the sensitivity, specificity, and accuracy of C-TIRADS were 84.6%, 91.3%, and 88.9%, respectively; those of BRAF V600E testing were 61.5%, 100.0%, and 86.1%, respectively; and those of the combined method were 84.6%, 91.3%, and 88.9%, respectively. The diagnostic performance of the combined method showed no significant difference compared with C-TIRADS or BRAF V600E testing alone (P>0.05). Conclusion C-TIRADS combined with BRAF V600E mutation testing provides better diagnostic efficacy for BSRTC category Ⅲ nodules with a maximum diameter of ≤10 mm and helps improve diagnostic accuracy in small BSRTC category Ⅲ nodules.
关键词
甲状腺结节 /
中国甲状腺影像报告和数据系统 /
BRAF V600E基因 /
联合诊断效能
Key words
thyroid nodule /
Chinese thyroid imaging reporting and data system /
BRAF V600E mutation /
combined diagnostic efficacy
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参考文献
［1］ Bibbins-Domingo K, Grossman DC, Curry SJ, et al. Screening for thyroid cancer: US preventive services task force recommendation statement［J］. JAMA, 2017,317(18):1882-1887.DOI:10.1001/jama.2017.4011.
［2］ Barile A, Quarchioni S, Bruno F, et al. Interventional radiology of the thyroid gland: critical review and state of the art［J］. Gland Surg, 2018,7(2):132-146.DOI:10.21037/gs.2017.11.17.
［3］ Jun P, Chow LC, Jeffrey RB. The sonographic features of papillary thyroid carcinomas: pictorial essay［J］. Ultrasound Q, 2005,21(1):39-45.PMID: 15716757.
［4］ 中华医学会超声医学分会浅表器官和血管学组, 中国甲状腺与乳腺超声人工智能联盟. 2020甲状腺结节超声恶性危险分层中国指南：C-TIRADS［J］. 中华超声影像学杂志, 2021,30(3):185-200.DOI:10.3760/cma.j.cn131148-20210205-00092.
［5］ Cibas ES, Ali SZ. The 2017 Bethesda System for Reporting Thyroid Cytopathology［J］. Thyroid, 2017, 27(11): 1341-1346. DOI:10.1089/thy.2017.0500.
［6］ Haugen BR, Alexander EK, Bible KC, et al. 2015 American Thyroid Association management guidelines for adult patients with thyroid nodules and differentiated thyroid cancer: the American Thyroid Association guidelines task force on thyroid nodules and differentiated thyroid cancer［J］. Thyroid, 2016,26(1):1-133.DOI:10.1089/thy.2015.0020.
［7］ Marin F, Murillo R, Diego C, et al. The impact of repeat fine-needle aspiration in thyroid nodules categorized as atypia of undetermined significance or follicular lesion of undetermined significance: a single center experience［J］. Diagn Cytopathol, 2021,49(3):412-417.DOI:10.1002/dc.24676.
［8］ Jan I, Lee Y, Wang C, et al. The surgery and repeat aspiration outcomes of the atypia of undetermined significance/follicular lesion of undetermined significance category in The Bethesda System for Reporting Thyroid Cytopathology［J］. Asian J Surg, 2019, 42(1): 144-147. DOI:10.1016/j.asjsur.2018.02.008.
［9］ Liu Z, Liu D, Ma B, et al. History and practice of thyroid fine-needle aspiration in china, based on retrospective study of the practice in Shandong University Qilu Hospital［J］. J Pathol Transl Med, 2017,51(6):528-532.DOI:10.4132/jptm.2017.09.12.
［10］ Olson MT, Clark DP, Erozan YS, et al. Spectrum of risk of malignancy in subcategories of 'atypia of undetermined significance'［J］. Acta Cytol, 2011,55(6):518-525.DOI:10.1159/000333232.
［11］ Haugen BR. 2015 American Thyroid Association management guidelines for adult patients with thyroid nodules and differentiated thyroid cancer: what is new and what has changed?［J］. Cancer, 2017,123(3):372-381.DOI:10.1002/cncr.30360.
［12］ Gharib H, Papini E, Paschke R, et al. American association of clinical endocrinologists, associazione medici endocrinologi, and European thyroid association medical guidelines for clinical practice for the diagnosis and management of thyroid nodules［J］. J Endocrinol Invest, 2010,33(suppl 5):1-50.PMID: 20543550.
［13］ Kuru B, Atmaca A, Kefeli M. Malignancy rate associated with Bethesda category Ⅲ (AUS/FLUS) with and without repeat fine needle aspiration biopsy［J］. Diagn Cytopathol, 2016,44(5):394-398.DOI:10.1002/dc.23456.
［14］ 李娟, 刘潇, 叶显俊. TIRADS联合BRAFV600E基因检测诊断意义不明确的非典型病变或滤泡性病变的临床价值［J］. 临床超声医学杂志, 2025,27(4):327-331.DOI:10.16245/j.cnki.issn1008-6978.2025.04.007.
［15］ 张滢, 梁楠, 孙辉. 基因变异在儿童与成人甲状腺乳头状癌生物学行为差异中的作用［J］. 中国实用外科杂志, 2023,43(2):226-230.DOI:10.19538/j.cjps.issn1005-2208.2023.02.20.
［16］ 朱长雨, 顾梅, 党受涛, 等. 甲状腺乳头状癌临床病理学特征与BRAFV600E基因突变相关性研究［J］. 中国实用外科杂志, 2019,39(3):237-239.DOI:10.19538/j.cjps.issn1005-2208.2019.03.12.
［17］ Hang J, Chen J, Kuo P, et al. A shift in molecular drivers of papillary thyroid carcinoma following the 2017 world health organization classification: characterization of 554 consecutive tumors with emphasis on BRAF-negative cases［J］. Mod Pathol, 2023, 36(9): 100242. DOI:10.1016/j.modpat.2023.100242.
