Circulating cell-free DNA-based methylation pattern in plasma for early diagnosis of esophagus cancer

PeerJ. 2024 Jan 31:12:e16802. doi: 10.7717/peerj.16802. eCollection 2024.

Abstract

With the increased awareness of early tumor detection, the importance of detecting and diagnosing esophageal cancer in its early stages has been underscored. Studies have consistently demonstrated the crucial role of methylation levels in circulating cell-free DNA (cfDNA) in identifying and diagnosing early-stage cancer. cfDNA methylation pertains to the methylation state within the genomic scope of cfDNA and is strongly associated with cancer development and progression. Several research teams have delved into the potential application of cfDNA methylation in identifying early-stage esophageal cancer and have achieved promising outcomes. Recent research supports the high sensitivity and specificity of cfDNA methylation in early esophageal cancer diagnosis, providing a more accurate and efficient approach for early detection and improved clinical management. Accordingly, this review aims to present an overview of methylation-based cfDNA research with a focus on the latest developments in the early detection of esophageal cancer. Additionally, this review summarizes advanced analytical technologies for cfDNA methylation that have significantly benefited from recent advancements in separation and detection techniques, such as methylated DNA immunoprecipitation sequencing (MeDIP-seq). Recent findings suggest that biomarkers based on cfDNA methylation may soon find successful applications in the early detection of esophageal cancer. However, large-scale prospective clinical trials are required to identify the potential of these biomarkers.

Keywords: Cell-free DNA; DNA methylation; Early diagnosis; Esophageal cancer.

Publication types

  • Review

MeSH terms

  • Biomarkers
  • Cell-Free Nucleic Acids* / genetics
  • DNA Methylation / genetics
  • Early Detection of Cancer / methods
  • Esophageal Neoplasms* / diagnosis
  • Humans
  • Prospective Studies

Substances

  • Cell-Free Nucleic Acids
  • Biomarkers

Grants and funding

This study was funded by the Graduate Innovation Project of the Jilin University (No. 2022003), Beijing Science and Innovation Medical Development Foundation (No. KC2022-JX-0025), and Science and Technology Department of Jilin Province (20130604050TC & 20210204123YY). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.