摘要
Abstract
Objective To investigate the distribution characteristics of BRAFV600E mutation in cytological diagnosis of thyroid fine-needle aspiration cytology(FNAC)and analyze the diagnostic value of combining FNAC with BRAFV600E mutation detection for the preoperative diagnosis of papillary thyroid carcinoma(PTC).Methods A retrospective analysis was conducted on 261 consecutive thyroid nodules that underwent FNAC at Huadong Hospital Affiliated to Fudan Univer-sity between November 2021 and January 2024.All nodules were tested for mutations in BRAF,TERT,RET,HRAS,KRAS,NRAS,PPARG,and NTRK genes using the amplification refractory mutation system-polymerase chain reaction(ARMS-PCR).The distribution of BRAFV600E mutations across the Bethesda system for reporting thyroid cytopathology(TBSRTC)was analyzed.Among the 261 thyroid nodules,69 underwent postoperative histopathological examination,including 65 diagnosed as PTC,3 as follicular tumors,and 1 as a follicular nodule.Using postoperative histopathology as the gold stan-dard,the diagnostic value(accuracy,sensitivity,and specificity)of FNAC combined with BRAFV600E mutation detection for preoperative PTC diagnosis was analyzed.Results Among the 261 FNAC samples,98 thyroid nodules were BRAFV600E-positive,with 78.6%of positive samples classified as category Ⅴ or Ⅵ in the TBSRTC.The accuracy of FNAC,BRAFV600E mutation detection,and their combination in differentiating PTC was 76.8%,81.2%,and 89.9%,respectively.The sensitivi-ty was 76.9%,80.0%,and 90.8%,and the specificity was 75.0%,100.0%,and 75.0%,respectively.The area under the ROC curve(AUC)for each method was 0.759 6,0.900 0,and 0.828 8,respectively.Z-test results showed that the AUC of FNAC combined with BRAFV600E mutation detection was improved compared to that of FNAC alone(P=0.008 2).Conclusion This study has found that 78.6%of BRAFV600E mutation-positive cases were classified as categories Ⅴ and Ⅵin the TBSRTC,indicating that BRAFV600E mutation detection can serve as an important supplementary marker for diagno-sing high-risk PTC nodules.Compared with FNAC alone,the combination of FNAC and BRAFV600E mutation detection improves the preoperative diagnostic accuracy of PTC.关键词
细针穿刺细胞学/BRAFV600E突变检测/甲状腺乳头状癌/诊断学Key words
Fine-needle aspiration cytology/BRAFV600E mutation detection/Papillary thyroid carcinoma/Diagnostics分类
医药卫生
