目的 探讨超声引导下细针穿刺细胞学(US-FNAC)联合BRAFV600E基因检测对甲状腺结节良恶性诊断效能的影响.方法 回顾性分析该院2021年10月至2022年12月160例甲状腺影像报告数据系统(TI-RADS)4类甲状腺结节患者,术前均行甲状腺US-FNAC检查及BRAFV600E基因检测,并进行术后组织病理结果对比.依据Bethesda报告系统对甲状腺结节进行分类,荧光定量聚合酶链反应检测BRAFV600E基因突变情况,分析上述两者方法分别单独检测及联合检测诊断甲状腺乳头状癌(PTC)的灵敏度、特异度、准确性、阳性预测值及阴性预测值.结果 160例TI-RADS 4类甲状腺结节患者中,US-FNAC结果显示22例为良性,20例为意义不明确的细胞非典型病变,118例为可疑乳头状癌细胞,US-FNAC诊断的灵敏度、特异度和准确度分别为99.11%、75.00%、94.29%,阳性预测值为94.07%,阴性预测值为95.45%;112例发生BRAFV600E基因突变,BRAFV600E基因突变检测的灵敏度、特异度和准确度分别为89.29%、92.86%、90.00%,阳性预测值为98.04%,阴性预测值为68.42%.US-FNAC联合BRAFV600E基因突变检测的灵敏度、特异度和准确度分别为100.00%、67.86%、93.57%,阳性预测值为92.56%,阴性预测值为100.00%.术后组织病理学结果对比,BRAFV600E基因突变检测可鉴别诊断出US-FNAC结果中20例意义不明确的细胞非典型病变类型,差异有统计学意义(P<0.05).结论 US-FNAC联合BRAFV600E基因突变检测可提高术前甲状腺结节良恶性的诊断灵敏度,尤其是对于US-FNAC诊断为意义不明确的细胞非典型病变病例有较高临床价值.
Objective To investigate the effect of ultrasound-guided fine needle aspiration cytology(US-FNAC)combined with BRAFV600E genetic testing on the diagnostic efficiency of benign and malignant thyroid nodules.Methods A total of 160 cases of TI-RADS 4 thyroid nodules in the thyroid image reporting data system were retrospectively analyzed.All cases underwent thyroid US-FNAC examination and BRAFV600E gene test,and the postoperative pathological results served as the contrast.The thyroid nodule was classified according to the Bethesda reporting system.The quantitative fluorescence polymerase chain re-action(qRT-PCR)test was used to detect the BRAFV600E gene mutation.The sensitivity,specificity,accu-racy,positive predictive value and negative predictive value of the single detection and combined detection of the above two methods in the diagnosis of papillary thyroid carcinoma(PTC)were analyzed.Results Among 160 patients with TI-RADS 4 type thyroid nodules,the US-FNAC results showed 22 cases of benign,20 cases of cellular atypical lesions of unclear significance and 118 cases of suspicious papillary carcinoma cells.The sensitivity,specificity and accuracy of US-FNAC diagnosis were 99.11%,75.00%and 92.49%respectively,the positive predictive value was 94.07%and negative predictive value was 95.45%;the BRAVFV600E ge-netic mutation occurred in 112 cases.The sensitivity,specificity and accuracy of BRAFV600E gene mutation detection were 89.29%,92.86%and 90.00%respectively,the positive predictive value was 98.04%and the negative predictive value was 68.42%.The sensitivity,specificity and accuracy of US-FNAC combined with BRAFV600E genetic mutation detection were 100.00%,67.86%and 93.57%,the positive predictive value was 92.56%and the negative predictive value was 100.00%.In the comparison of postoperative histopatho-logical results,the BRAFV600E gene mutation detection could differentially diagnose 20 cases of unclear sig-nificance cell atypical lesions in the US-FNAC results,and the difference was statistically significant(P<0.05).Conclusion US-FNAC combined with BRAFV600E gene mutation detection could improve the diag-nostic sensitivity of benign and malignant thyroid nodules before surgery,especially it has the high clinical val-ue for atypical cells of unknown significance diagnosed by US-FNAC.