BRAF V600E基因检测对超声高危、细胞学Bethesda Ⅰ类甲状腺结节良恶性的鉴别诊断价值

Value of BRAF V600E Gene Detection in the Differential Diagnosis of Benign and Malignant Thyroid Nodules with Ultrasound High Risk and Cytology Bethesda Class Ⅰ

目的 探讨BRAF V600E基因检测对超声高危、细胞学BethesdaⅠ类甲状腺结节良恶性的鉴别诊断价值,以及与BRAF V600E基因突变相关的临床超声特征。方法 回顾性分析郑州大学第一附属医院2018年3月至2019年6月经超声诊断为高危且细针穿刺判读为细胞学BethesdaⅠ类的甲状腺结节共780例,其中行BRAF V600E基因检测且有组织病理结果的共70例,将这些患者纳入研究。计算BRAF V600E基因检测在诊断超声高危、细胞学BethesdaⅠ类甲状腺结节的特异度、敏感度、阳性预测值、阴性预测值以及阳性率,构建受试者工作特征(ROC)曲线分析BRAF V600E基因检测对这类结节的诊断效能;应用χ^(2)检验分析与BRAF V600E基因突变相关的临床超声特征。结果 BRAF V600E基因检测诊断超声高危、细胞学BethesdaⅠ类甲状腺结节的特异度为88.2%(15/17),敏感度为90.5%(48/53),阳性预测值为96.0%(48/50),阴性预测值为75.0%(15/20),阳性率为71.4%(50/70),曲线下面积为0.894。χ^(2)检验得出结节边缘不规则、微钙化、≥2个可疑恶性超声征象以及恶性组织病理与BRAF V600E基因突变相关(P<0.05)。结论 BRAF V600E基因检测对于鉴别超声高危、细胞学BethesdaⅠ类的甲状腺结节良恶性方面有较好的诊断价值,可以提高此类结节的恶性检出率。BRAF V600E基因突变与结节边缘不规则、微钙化、≥2个可疑恶性超声征象相关。

Objective To investigate the value of BRAF V600E gene detection in the differential diagnosis of benign and malignant thyroid nodules with ultrasound high risk,cytology Bethesda classⅠ,and the clinical ultrasound features associated with BRAF V600E gene mutation.Methods A total of 780 thyroid nodules diagnosed as high risk by ultrasound and interpreted as cytology Bethesda classⅠby fine needle aspiration from March 2018 to June 2019 at the First Affiliated Hospital of Zhengzhou University were retrospectively analyzed,of which 70 patients had BRAF V600E gene detection with histopathological findings.These patients were included in the study.The specificity,sensitivity,positive predictive value,negative predictive value and positive rate of BRAF V600E gene detection in the diagnosis of ultrasound high risk,cytology Bethesda classⅠthyroid nodules were calculated,and receiver operating characteristic(ROC)curves were constructed to analyze the diagnostic efficacy of BRAF V600E gene detection for these nodules.The clinical ultrasound features associated with BRAF V600E gene mutation were analyzed by usingχ^(2) test.Results The specificity,sensitivity,positive predictive value,negative predictive value and positive rate of BRAF V600E gene detection in the diagnosis of ultrasound high risk,cytology Bethesda classⅠthyroid nodules were 88.2%(15/17),90.5%(48/53),96.0%(48/50),75.0%(15/20)and 71.4%(50/70),respectively,and the area under the curve was 0.894.Theχ^(2) test showed that irregular nodal margins,microcalcifications,≥2 suspicious malignant ultrasound signs and malignant histopathology associated with BRAF V600E gene mutation(P<0.05).Conclusion The BRAF V600E gene detection has a good diagnostic value in differentiating benign and malignant thyroid nodules with ultrasound high risk,cytology Bethesda classⅠ,and can improve the detection rate of malignancy in these nodules.The association of BRAF V600E mutations with irregular nodule margins,microcalcifications,and≥2 suspicious malignant ultrasound signs.