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多基因检测在甲状腺结节中的诊断价值及卫生经济学分析

Diagnostic value and health economic analysis of multigene testing in thyroid nodules
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摘要 目的:探究多基因检测[KRAS、NRAS、PIK3CA(H1047R)、BRAF(V600E),KNPB]在甲状腺结节诊断中的应用价值。方法:选取我院2020年1月至2021年2月行多基因检测的甲状腺结节患者232例,收集其临床信息,分析KNPB中各基因在甲状腺结节中的突变频率,以术后病理为“金标准”,比较各检测方法的敏感度、特异度、准确性、阳性预测值、阴性预测值、成本效果比及增量成本效果比。结果:232例患者中共251枚结节,其中共有BRAF(V600E)突变69枚(27.49%),KRAS突变11枚(4.38%),NRAS突变9枚(3.59%),PIK3CA(H1047R)未检测到突变。在164例手术患者中包括结节性甲状腺肿64例、甲状腺腺瘤9例、甲状腺滤泡状癌4例、甲状腺乳头状癌87例,仅BRAF(V600E)基因在不同病理类型中的差异有统计学意义(P<0.001)。细针抽吸细胞学检查(fine needle aspiration cytology,FNAC)联合BRAF(V600E)单基因检测的受试者工作特征曲线下面积为0.856,增量成本效果比为98.81。结论:相较于多基因检测,FNAC联合BRAF(V600E)单基因检测对甲状腺结节的诊断效能和卫生经济学价值最优。 Objective:To investigate the value of multigene testing[KRAS,NRAS,PIK3CA(H1047R)and BRAF(V600E),KNPB]in the diagnosis of thyroid nodules.Methods:A total of 232 patients with thyroid nodules who underwent multigene testing from January 2020 to February 2021 were selected from our hospital.Clinical information was collected to analyse the mutation frequency of each gene in KNPB in thyroid nodules.The sensitivity,specificity,accuracy,positive predictive value,negative predictive value,cost-effectiveness ratio and incremental cost-effectiveness ratio of each test were compared using postoperative pathology as the"gold standard".Results:There were 251 nodules in 232 patients,with a total of 69(27.49%)BRAF(V600E)mutations,11(4.38%)KRAS mutations,9(3.59%)NRAS mutations,and no mutation detected in PIK3CA(H1047R).Among the 164 operated patients including 64 nodular goitres,9 thyroid adenomas,4 follicular thyroid carcinomas and 87 papillary thyroid carcinomas,the difference was statistically significant only for the BRAF(V600E)gene(P<0.001).The area under the receiver operating characteristic(ROC)curve of fine needle aspiration cytology(FNAC)combined with BRAF(V600E)single gene detection was 0.856 and the incremental cost-effectiveness ratio was 98.81.Conclusion:Compared to multigenetesting,FNAC combined with BRAF(V600E)single gene detection has the best diagnostic performance and health economic value for thyroid nodules.
作者 罗承敏 陈保林 闫忠梁 鲍宇翔 张能英 李佳阳 李涛浪 程晓明 吕俊远 LUO Chengmin;CHEN Baolin;YAN Zhongliang;BAO Yuxiang;ZHANG Nengying;LI Jiayang;LI Taolang;CHENG Xiaoming;LYU Junyuan(Department of General Surgery,the Affiliated Hospital of Zunyi Medical University,Guizhou Zunyi 563099,China;Department of Breast and Thyroid Surgery,the Second Affiliated Hospital of Zunyi Medical University,Guizhou Zunyi 563006,China;Office of Drug Clinical Trial Institution,the Affiliated Hospital of Zunyi Medical University,Guizhou Zunyi 563099,China;Key Laboratory of Basic Pharmacology of Ministry of Education and Joint International Research Laboratory of Ethnomedicine of Ministry of Education,Zunyi Medical University,Guizhou Zunyi 563006,China)
出处 《现代肿瘤医学》 CAS 2024年第18期3453-3459,共7页 Journal of Modern Oncology
关键词 甲状腺结节 甲状腺肿瘤 基因检测 细针抽吸活检 卫生经济学 thyroid nodules thyroid carcinoma genetic testing fine needle aspiration health economics
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