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外周血ctDNA在结直肠癌中的临床筛查研究 被引量:1

Clinical screening study of peripheral blood ctDNA in colorectal cancer
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摘要 目的探究外周血循环肿瘤DNA(ctDNA)在结直肠癌中的临床筛查研究价值。方法对行根治性手术的97例结直肠癌患者的临床及随访资料进行分析。收集所有患者的一般资料及术前1 d、术后1个月的外周血癌胚抗原(CEA)水平及外周血ctDNA基因检测结果,收集患者手术中肿瘤组织标本免疫组化结果及基因的检测结果并进行比较;分析外周血ctNDA与CEA对于检查结直肠癌的诊断效能。结果肿瘤组织S-P免疫组化检测MLH1/MSH2/MSH6/PMS2蛋白结果与肿瘤组织基因测序同样的基因位点结果一致,两者检测的灵敏度、特异度及准确率均为100%;外周血ctDNA基因检测的结果与肿瘤组织基因检测结果相同,灵敏度为88.5%,特异度为100%,准确率为89.7%;术前,结肠癌患者每2 mL外周血ctDNA含量为(17.95±8.40)ng,直肠癌患者每2 mL外周血ctDNA含量为(11.73±5.39)ng,Wilcoxon秩和检验结果显示,差异有统计学意义(P<0.05);术前外周血ctDNA诊断结直肠癌患者的灵敏度为76.3%、准确率为76.3%;前CEA检测灵敏度与准确率均显著低于术前外周血ctDNA诊断(P<0.05);术后外周血ctDNA预测结直肠癌复发的灵敏度为100%、特异度为78.4%、准确率为80.4%;术后检测外周血CEA预测结直肠癌复发的灵敏度为33.3%、特异度为73.9%、准确率为76.3%。结论结直肠癌患者采用ctDNA基因检测与肿瘤组织活检的结果一致,两种方式在临床可以依据患者个人情况灵活使用;结肠癌患者外周血ctDNA含量高于直肠癌患者,更容易在ctDNA中检测到基因突变的发生;外周血ctDNA诊断结直肠癌灵敏度较高,能够作为一种新的肿瘤标志物用于早期诊治与预后辅助诊断中。 Objective To explore the value of circulating tumor DNA(ctDNA)in the clinical screening of colorectal cancer.Methods A clinical and follow-up study analysis of 97 patients with colorectal cancer who were admitted to hospital underwent radical surgery.The general data of all patients,the CEA level and the detection results of ctDNA gene in peripheral blood were collected one day before surgery and one month after surgery,and the immunohistochemical results and gene detection results of tumor tissue samples during surgery were collected and compared.The diagnostic efficacy of peripheral blood ctNDA and CEA in detecting colorectal cancer were analyzed.Results The results of S-P immunohistochemical detection of MLH1/MSH2/MSH6/PMS2 protein in tumor tissue were consistent with the results of the same gene locus in tumor tissue gene sequencing,and the sensitivity,specificity and accuracy of both detections wre 100%;The results of ctDNA gene detection in peripheral blood were the same as those in tumor tissue,with a sensitivity of 88.5%,a specificity of 100%,and an accuracy of 89.7%;Before surgery,the ctDNA content per 2ml of peripheral blood in patients with colon cancer was(17.95±8.40)ng,and the content of ctDNA per 2ml in patients with rectal cancer was(11.73±5.39)ng,WILCOXON rank sum test results showed that the difference was statistically significant(P<0.05);The sensitivity and accuracy of preoperative peripheral blood ctDNA in diagnosing colorectal cancer patients were 76.3%,and the accuracy was 76.3%;The sensitivity and accuracy of CEA detection were both significantly lower than the preoperative peripheral blood ctDNA diagnosis(P<0.05);The sensitivity of postoperative peripheral blood ctDNA to predict the recurrence of colorectal cancer was 100%,the specificity was 78.4%,and the accuracy was 80.4%;The sensitivity of postoperative peripheral blood CEA to predict colorectal cancer recurrence was 33.3%,the specificity was 73.9%,and the accuracy was 76.3%.Conclusion The ctDNA gene detection in patients with colore
作者 马玉红 刘永瑛 赵良玉 辛国军 唐媛媛 李玉珍 MA Yuhong;LIU Yongying;ZHAO Liangyu;XIN Guojun;TANG Yuanyuan;LI Yuzhen(Department of Gastroenterology,People’s Hospital of Ningxia Hui Autonomous Region,Yinchuan 750002,China)
出处 《宁夏医学杂志》 CAS 2022年第5期392-395,共4页 Ningxia Medical Journal
基金 宁夏回族自治区重点研发计划一般项目(2019BEG03055)。
关键词 循环肿瘤DNA 结直肠癌 二代测序技术 临床筛查 Circulating tumor DNA Colorectal cancer Next-generation sequencing technology Clinical screening
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