[1]杨志珍,谈艳芳.ctDNA启动子区甲基化在食管鳞癌诊断中的应用价值[J].医学信息,2024,37(06):91-95,134.[doi:10.3969/j.issn.1006-1959.2024.06.015]
 YANG Zhi-zhen,TAN Yan-fang.Application Value of ctDNA Promoter Methylation in the Diagnosis of Esophageal Squamous Cell Carcinoma[J].Journal of Medical Information,2024,37(06):91-95,134.[doi:10.3969/j.issn.1006-1959.2024.06.015]
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ctDNA启动子区甲基化在食管鳞癌诊断中的应用价值()
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医学信息[ISSN:1006-1959/CN:61-1278/R]

卷:
37卷
期数:
2024年06期
页码:
91-95,134
栏目:
论著
出版日期:
2024-03-15

文章信息/Info

Title:
Application Value of ctDNA Promoter Methylation in the Diagnosis of Esophageal Squamous Cell Carcinoma
文章编号:
1006-1959(2024)06-0091-06
作者:
杨志珍谈艳芳
(1.成都中医药大学医学技术学院,四川 成都 610000;2.德阳市人民医院检验科,四川 德阳 618000)
Author(s):
YANG Zhi-zhenTAN Yan-fang
(1.College of Medical Technology,Chengdu University of Traditional Chinese Medicine,Chengdu 610000,Sichuan,China;2.Department of Clinical Laboratory,Deyang People’s Hospital,Deyang 618000,Sichuan,China)
关键词:
NA甲基化食管鳞状细胞癌生物标志物
Keywords:
DNA methylationEsophageal squamous cell carcinomaBiomarkers
分类号:
R735.1
DOI:
10.3969/j.issn.1006-1959.2024.06.015
文献标志码:
A
摘要:
目的 探讨ctDNA启动子区(Promoter)甲基化在食管鳞状细胞癌患者血浆中的表达情况,筛选可作为诊断食管鳞状细胞癌潜在的生物标志物。方法 收集2022年8月-2023年1月于德阳市人民医院初诊为食管鳞状细胞癌患者与健康体检者血浆标本分别作为食管鳞癌组与健康对照组。采用全基因酶促甲基化测序(EM-Seq)检测两组间的ctDNA甲基化差异表达水平,结合GO、KEGG、Reactome富集筛选出食管鳞癌组甲基化水平高于健康对照组的前4位基因作为食管鳞状细胞癌相关的诊断生物标志物。结果 EM-Seq测序得到两组差异甲基化区基因共9354个,其中食管鳞癌组高于健康对照组的有553个基因位于Promoter上。相关通路富集显示,食管鳞癌组甲基化水平高于健康对照组的前4位基因为AXIN1、EPS15、CACTIN、E2F1,分别位于16号染色体、1号染色体、19号染色体和20号染色体上,涉及DNA损伤修复、Wnt信号通路、EGFR信号通路及NF-kB信号通路等肿瘤中常见信号通路。结论 AXIN1、EPS15、CACTIN和E2F1基因或可作为诊断食管鳞状细胞癌的潜在生物标志物。
Abstract:
Objective To investigate the expression of ctDNA promoter methylation in plasma of patients with esophageal squamous cell carcinoma, and to screen potential biomarkers for the diagnosis of esophageal squamous cell carcinoma.Methods The plasma samples of patients with esophageal squamous cell carcinoma and healthy subjects who were newly diagnosed in Deyang People’s Hospital from August 2022 to January 2023 were collected as esophageal squamous cell carcinoma group and healthy control group respectively. The differential expression levels of ctDNA methylation between the two groups were detected by whole-genome enzymatic methylation sequencing (EM-Seq). Combined with GO, KEGG, and Reactome enrichment, the first four genes with higher methylation levels in the esophageal squamous cell carcinoma group than in the healthy control group were selected as diagnostic biomarkers related to esophageal squamous cell carcinoma.Results A total of 9354 differentially methylated genes were obtained by EM-Seq sequencing. Among them, 553 genes in the esophageal squamous cell carcinoma group were higher than those in the healthy control group. The enrichment of related pathways showed that the top four genes with higher methylation level in esophageal squamous cell carcinoma group than in healthy control group were AXIN1, EPS15, CACTIN and E2F1, which were located on chromosome 16, chromosome 1, chromosome 19 and chromosome 20, respectively, involving DNA damage repair, Wnt signaling pathway, EGFR signaling pathway, NF-kB signaling pathway and other common signaling pathways in tumors.Conclusion AXIN1, EPS15, CACTIN and E2F1 genes may be potential biomarkers for the diagnosis of esophageal squamous cell carcinoma.

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更新日期/Last Update: 1900-01-01