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  • Methylation-based testing in PBMCs as a promising biomarker for colorectal cancer diagnosis and prognosis

  • Yousef Mohammadi,1 Meysam Mosallaei,2,*
    1. Student Research Committee, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
    2. Medical Biotechnology Research Center, AJA University of Medical Sciences, Tehran, Iran.


  • Introduction: Colorectal cancer (CRC) remains one of the leading causes of cancer-related mortality worldwide, emphasizing the urgent need for reliable and non-invasive biomarkers for early detection, diagnosis, and prognosis. Recent studies have identified DNA methylation patterns in peripheral blood mononuclear cells (PBMCs) as potential biomarkers for CRC. This systematic review aims to evaluate the diagnostic and prognostic utility of methylation-based testing in PBMCs in CRC.
  • Methods: We conducted a comprehensive literature search across multiple databases, including PubMed, Scopus, and Web of Science, to identify studies evaluating the methylation status of the gene promoters in PBMCs from CRC patients. Inclusion criteria comprised original research articles assessing methylation levels using validated quantitative methods.
  • Results: The review consistently demonstrated that promoter sequence of MGMT, MMP9, PLOD1, RUNX3, NDRG4, TFPI2, ITGA4, TUSC3, MLH1 were hypermethylated in CRC patients compared with healthy controls. The pooled sensitivity and specificity for CRC diagnosis based on PBMC methylation markers were 87% and 82%, respectively. Higher methylation levels of these genes were associated with advanced disease stages and poorer prognosis, indicating their potential as diagnostic and prognostic biomarkers. Importantly, these methylation markers also showed potential for early detection of CRC, providing a significant advantage in improving patient outcomes through earlier intervention.
  • Conclusion: Methylation-based testing in PBMCs represents a promising non-invasive approach for CRC diagnosis, prognosis, and early detection. Further large-scale studies are warranted to validate these findings and explore their clinical application in routine CRC screening and management.
  • Keywords: Colorectal cancer, PBMCs, Methylation, Biomarker.

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