目的:比较血清循环miRNA与cfDNA甲基化标志物在非病毒性原发性肝癌早期诊断中的效能,探索联合检测的诊断价值。方法:选取2022年5月至2025年5月河南大学第一附属医院非病毒性原发性肝癌患者100例作为病例组,同期健康体检者100例作为对照...目的:比较血清循环miRNA与cfDNA甲基化标志物在非病毒性原发性肝癌早期诊断中的效能,探索联合检测的诊断价值。方法:选取2022年5月至2025年5月河南大学第一附属医院非病毒性原发性肝癌患者100例作为病例组,同期健康体检者100例作为对照组。采用实时荧光定量PCR检测血清循环miRNA(miR-21、miR-122、miR-199a-3p、miR-223-3p)相对表达量,采用甲基化特异性PCR检测cfDNA甲基化标志物(GSTP1、RASSF1A、CDKN2A、MGMT)。通过受试者工作特征曲线分析各标志物的诊断效能,建立联合诊断模型。结果:病例组血清miR-21、miR-199a-3p表达水平显著高于对照组(4.73±1.86 vs 1.52±0.64、3.96±1.47 vs 1.28±0.53,P<0.001),miR-122、miR-223-3p表达水平显著低于对照组(2.13±0.87 vs 6.84±2.34、30.47±0.23 vs 1.89±0.71,P<0.001)。病例组GSTP1、RASSF1A、CDKN2A、MGMT基因甲基化阳性率分别为78.00%、71.00%、65.00%、58.00%,均显著高于对照组的8.00%、12.00%、15.00%、9.00%(P<0.001)。单一标志物诊断中,miR-122的曲线下面积最大0.92,GSTP1甲基化特异性最高92.00%。miRNA联合模型曲线下面积为0.96(敏感性94.00%,特异性93.00%),cfDNA甲基化联合模型为0.93(敏感性86.00%,特异性94.00%),全标志物联合模型达到0.98(敏感性96.00%,特异性95.00%)。结论:血清循环miRNA与cfDNA甲基化标志物在非病毒性原发性肝癌早期诊断中均具有良好效能,联合检测能够显著提高诊断准确性,为临床早期诊断提供了新的策略。展开更多
The profiling of plasma cell-free DNA(cfDNA)is becoming a valuable tool rapidly for tumor diagnosis,monitoring and prognosis.Diverse plasma cfDNA technologies have been in routine or emerging use,including analyses of...The profiling of plasma cell-free DNA(cfDNA)is becoming a valuable tool rapidly for tumor diagnosis,monitoring and prognosis.Diverse plasma cfDNA technologies have been in routine or emerging use,including analyses of mutations,copy number alterations,gene fusions and DNA methylation.Recently,new technologies in cfDNA analysis have been developed in laboratories,and potentially reflect the status of epigenetic modification,the immune microenvironment and the microbiome in tumor tissues.In this review,the authors discuss the principles,methods and effects of the current cfDNA assays and provide an overview of studies that may inform clinical applications in the near future.展开更多
文摘目的:比较血清循环miRNA与cfDNA甲基化标志物在非病毒性原发性肝癌早期诊断中的效能,探索联合检测的诊断价值。方法:选取2022年5月至2025年5月河南大学第一附属医院非病毒性原发性肝癌患者100例作为病例组,同期健康体检者100例作为对照组。采用实时荧光定量PCR检测血清循环miRNA(miR-21、miR-122、miR-199a-3p、miR-223-3p)相对表达量,采用甲基化特异性PCR检测cfDNA甲基化标志物(GSTP1、RASSF1A、CDKN2A、MGMT)。通过受试者工作特征曲线分析各标志物的诊断效能,建立联合诊断模型。结果:病例组血清miR-21、miR-199a-3p表达水平显著高于对照组(4.73±1.86 vs 1.52±0.64、3.96±1.47 vs 1.28±0.53,P<0.001),miR-122、miR-223-3p表达水平显著低于对照组(2.13±0.87 vs 6.84±2.34、30.47±0.23 vs 1.89±0.71,P<0.001)。病例组GSTP1、RASSF1A、CDKN2A、MGMT基因甲基化阳性率分别为78.00%、71.00%、65.00%、58.00%,均显著高于对照组的8.00%、12.00%、15.00%、9.00%(P<0.001)。单一标志物诊断中,miR-122的曲线下面积最大0.92,GSTP1甲基化特异性最高92.00%。miRNA联合模型曲线下面积为0.96(敏感性94.00%,特异性93.00%),cfDNA甲基化联合模型为0.93(敏感性86.00%,特异性94.00%),全标志物联合模型达到0.98(敏感性96.00%,特异性95.00%)。结论:血清循环miRNA与cfDNA甲基化标志物在非病毒性原发性肝癌早期诊断中均具有良好效能,联合检测能够显著提高诊断准确性,为临床早期诊断提供了新的策略。
基金supported by the Beijing Natural Science Foundation(No.Z190022)the National Natural Science Foundation of China(No.81972680,81773292 and 82072748)。
文摘The profiling of plasma cell-free DNA(cfDNA)is becoming a valuable tool rapidly for tumor diagnosis,monitoring and prognosis.Diverse plasma cfDNA technologies have been in routine or emerging use,including analyses of mutations,copy number alterations,gene fusions and DNA methylation.Recently,new technologies in cfDNA analysis have been developed in laboratories,and potentially reflect the status of epigenetic modification,the immune microenvironment and the microbiome in tumor tissues.In this review,the authors discuss the principles,methods and effects of the current cfDNA assays and provide an overview of studies that may inform clinical applications in the near future.
