Application Value of ctDNA Promoter Methylation in the Diagnosis of Esophageal Squamous Cell Carcinoma
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.
DNA methylationEsophageal squamous cell carcinomaBiomarkers
万方数据
维普
