Objective: To analyze the malignant probability of thyroid nodules with the diagnosis of atypia of undetermined significance or follicular lesion of undetermined significance (AUS/FLUS) determined by fine-needle aspiration (FNA) and to explore the value of the combined application of BRAFV600E gene detection for the diagnosis of benign and malignant thyroid nodules. Methods: A total of 114 patients including 20 males and 94 females, aged 16-76 years old with thyroid nodules underwent FNA examination and surgical treatment in the Affiliated Cancer Hospital of Zhengzhou University from October 2018 to November 2019 were retrospectively analyzed. Postoperative histopathological results were used as the gold standard for the diagnosis of malignant thyroid nodules. The malignant rate of thyroid nodules with the diagnosis of AUS/FLUS was evaluated. Differential diagnostic efficacy of preoperative FNA combined with BRAFV600E gene detection for papillary thyroid carcinoma (PTC) was analyzed by McNemer test and diagnostic test evaluation method. Results: The mutation rate of BRAFV600E gene was 84.76% (89/105) in PTC. PTC accounted for 57.14% (12/21) of the patients with the diagnoses of AUS/FLUS determined by FNA. The specificity, sensitivity, positive predictive value and negative predictive value of BRAFV600E mutation examination for the diagnosis of malignant thyroid nodules determined preoperatively as AUS/FLUS were 9/9, 5/12, 5/5 and 9/16, respectively. BRAFV600E mutation examination could improve the detection rate of PTC in patients with AUS/FLUS (OR=0.438, 95%CI=0.251-0.763, P=0.016). Conclusion: FNA combined with BRAFV600E mutation examination can significantly improve the detection rate of malignant thyroid nodules diagnosed preoperatively as AUS/FLUS.
目的： 分析甲状腺结节穿刺细胞学（fine-needle aspiration，FNA）诊断为意义不明确的细胞非典型病变或意义不明确的滤泡性病变（atypia of undetermined significance or follicular lesion of undetermined significance，AUS/FLUS）这一分类的恶性概率，探讨联合应用BRAFV600E基因检测在该分类中良恶性结节的诊断价值。 方法： 回顾性分析郑州大学附属肿瘤医院2018年10月至2019年11月共114例行甲状腺结节FNA检查并行手术治疗的患者，其中男20例，女94例，年龄16~76岁，以手术病理结果作为甲状腺结节性质诊断的金标准，评估细胞学结果为AUS/FLUS的恶性发生率，并应用配对χ2检验（McNemer检验）和诊断试验评价方法分析术前FNA联合应用BRAFV600E基因检测对甲状腺乳头状癌（papillary thyroid carcinoma，PTC）的鉴别诊断效能。采用SPSS 22.0软件进行统计学分析。 结果： PTC患者中，BRAFV600E基因突变率为84.76%（89/105）。在FNA结果为AUS/FLUS这一分类中，PTC所占比例为57.14%（12/21）。BRAFV600E基因突变在AUS/FLUS这一分类中诊断PTC的特异度、敏感度、阳性预测值和阴性预测值分别为：9/9、5/12、5/5和9/16。BRAFV600E基因突变能够提高该细胞学分类患者的PTC检出率（OR=0.438，95%CI=0.251~0.763，P=0.016）。 结论： 术前FNA联合BRAFV600E基因突变检测能显著提高细胞学诊断为AUS/FLUS的甲状腺结节的恶性检出率。.
Keywords: BRAF gene; Biopsy, fine-needle; Diagnosis; Thyroid neoplasms; Thyroid nodule.