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Updated: May 20, 2026
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Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer
Published on: September 18, 2020
Cell-free DNA Methylation Analysis, a Noninvasive Biomarker for Detection, Prediction, Classification, and Treatment
Reza Hooshyari Ardakani1, Hossein Rahimi2, Seyed Mahdi Mohamadi-Zarch3,4
1Faculty of Pharmacy, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Current Pharmaceutical Design
|May 19, 2026
Summary
Cell-free DNA (cfDNA) methylation profiling offers a highly accurate, non-invasive method for early brain tumor detection, classification, and monitoring. This promising technique aids in understanding treatment response and resistance, paving the way for improved patient care.
Area of Science:
- Oncology
- Molecular Diagnostics
- Genomics
Background:
- Brain tumors pose significant challenges in early detection and molecular characterization.
- Liquid biopsy using cell-free DNA (cfDNA) methylation profiling emerges as a non-invasive diagnostic tool.
Purpose of the Study:
- To review the utility of cfDNA methylation profiling for brain tumor detection, classification, prognostication, and monitoring.
- To assess the diagnostic accuracy and clinical potential of this approach.
Main Methods:
- A comprehensive literature search was conducted on PubMed up to July 2025.
- Studies focused on cfDNA methylation in brain tumors, particularly gliomas and medulloblastomas, were analyzed.
- Key findings regarding diagnostic accuracy, classification, and monitoring capabilities were summarized.
Main Results:
- cfDNA methylation profiling demonstrated high diagnostic accuracy (>97% sensitivity/specificity) for early tumor detection and classification.
- The method aids in identifying brain metastases and monitoring treatment response, including resistance.
- Cerebrospinal fluid generally shows higher sensitivity than plasma; advanced sequencing techniques improve performance.
Conclusions:
- cfDNA methylation analysis is a sensitive, minimally invasive tool for improving brain tumor diagnosis, stratification, and monitoring.
- Further large-scale prospective studies are needed to overcome challenges and enable clinical translation and standardization.
