当细胞学漏诊而超声预警时：BRAFV600E突变在甲状腺结节中的预测作用
When cytology misses and ultrasound warns: the predictive role of BRAFV600E mutation in thyroid nodules.
摘要(中文译文)
具有高度可疑超声特征但细胞学良性的甲状腺结节，由于细针穿刺（FNA）可能存在假阴性结果，仍是诊断难题。BRAFV600E突变是甲状腺乳头状癌（PTC）的标志性特征，可能有助于改善恶性风险分层。本研究前瞻性评估了BRAFV600E突变检测在细胞学非恶性、超声高度可疑甲状腺结节中的诊断效能。一项前瞻性观察性研究于2019年1月至2024年7月在吉林大学中日联谊医院开展，纳入562个超声高度可疑、细胞学非恶性或不确定（Bethesda II-III）的甲状腺结节。术前采用基于PCR的方法进行BRAFV600E分析，所有结节随后均接受手术切除并获得明确组织病理学诊断。通过单因素和多因素logistic回归评估突变状态、超声图像模式与最终诊断之间的关联。在562个结节中，280个（49.8%）携带BRAFV600E突变。最终病理确诊390例PTC（69.4%）和172个良性病变（30.6%）。BRAFV600E突变与恶性高度相关（66.2% vs. 12.8%，P < 0.001）。多因素分析显示，BRAFV600E阳性可独立预测PTC（OR = 10.36，95% CI = 6.18-17.35，P < 0.001）。该检测的敏感性为66.2%，特异性为87.2%，阳性预测值为92.1%，总体准确率为72.6%。BRAFV600E突变检测是评估细胞学良性或不确定、高度可疑甲状腺结节的一种有价值的分子工具。其较强的预测价值有助于更早识别甲状腺乳头状癌（PTC），但结果应始终结合临床病理学和影像学评估进行解读，以指导最佳诊断决策。在这一高度选择的人群中，BRAFV600E检测在高可疑超声特征之外提供了额外诊断价值，有助于在基线癌症患病率为69.4%的人群中提高对真恶性与良性模拟病变的区分能力。
Abstract
Thyroid nodules with high-suspicion ultrasound features but benign cytologic findings remain a diagnostic challenge due to potential false-negative fine-needle aspiration (FNA) results. The BRAFV600E mutation, a hallmark of papillary thyroid carcinoma (PTC), may improve malignancy risk stratification. This study prospectively evaluated the diagnostic performance of BRAFV600E mutation testing in ultrasound-high-suspicion thyroid nodules with non-malignant cytology. A prospective observational study was conducted at the China-Japan Union Hospital of Jilin University between January 2019 and July 2024, enrolling 562 ultrasound-high-suspicion thyroid nodules with non-malignant or indeterminate cytology (Bethesda II-III). Preoperative BRAFV600E analysis was performed using PCR-based methods, and all nodules subsequently underwent surgical excision with definitive histopathology. Associations between mutation status, sonographic patterns, and final diagnoses were assessed through univariate and multivariable logistic regression. Among 562 nodules, 280 (49.8%) harbored the BRAFV600E mutation. Final pathology confirmed 390 PTCs (69.4%) and 172 benign lesions (30.6%). The BRAFV600E mutation was strongly associated with malignancy (66.2% vs. 12.8%, P < 0.001). On multivariable analysis, BRAFV600E positivity independently predicted PTC (OR = 10.36, 95% CI = 6.18-17.35, P < 0.001). The test showed a sensitivity of 66.2%, specificity of 87.2%, positive predictive value of 92.1%, and overall accuracy of 72.6%. BRAFV600E mutation testing is a valuable molecular tool for evaluating high-suspicion thyroid nodules with cytologically benign or indeterminate findings. Its strong predictive value enables earlier identification of papillary thyroid carcinoma (PTC), but results should always be interpreted alongside clinicopathologic and imaging assessments to guide optimal diagnostic decisions. In this highly selected cohort, BRAFV600E testing added diagnostic value beyond high-suspicion ultrasound features, improving the distinction between true malignancy and benign mimics in a population with a 69.4% baseline cancer prevalence.
如何引用
AMA
Liu Jie, Cai Wenqing, Zhang Guang, Li Shijie, Fu Qingfeng, Li Kangping, et al. When cytology misses and ultrasound warns: the predictive role of BRAFV600E mutation in thyroid nodules.. Frontiers in endocrinology. 2026; doi:10.3389/fendo.2026.1803314.
APA
Liu Jie, Cai Wenqing, Zhang Guang, Li Shijie, Fu Qingfeng, Li Kangping, et al (2026). When cytology misses and ultrasound warns: the predictive role of BRAFV600E mutation in thyroid nodules.. Frontiers in endocrinology. https://doi.org/10.3389/fendo.2026.1803314
GB/T 7714
Liu Jie, Cai Wenqing, Zhang Guang, Li Shijie, Fu Qingfeng, Li Kangping, et al. When cytology misses and ultrasound warns: the predictive role of BRAFV600E mutation in thyroid nodules.[J]. Frontiers in endocrinology, 2026 doi:10.3389/fendo.2026.1803314.
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