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Updated: Nov 18, 2025
Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer
Published on: September 18, 2020
A serum-based DNA methylation assay provides accurate detection of glioma
Thais S Sabedot1,2, Tathiane M Malta1,2, James Snyder1,2,3
1Department of Neurosurgery, Hermelin Brain Tumor Center, Henry Ford Health System, Detroit, Michigan, USA.
Background:
The detection of somatic mutations in cell-free DNA (cfDNA) from liquid biopsy has emerged as a noninvasive tool to monitor the follow-up of cancer patients. However, the significance of cfDNA clinical utility remains uncertain in patients with brain tumors, primarily because of the limited sensitivity cfDNA has to detect real tumor-specific somatic mutations. This unresolved challenge has prevented accurate follow-up of glioma patients with noninvasive approaches.
Methods:
Genome-wide DNA methylation profiling of tumor tissue and serum cfDNA of glioma patients.
Results:
Here, we developed a noninvasive approach to profile the DNA methylation status in the serum of patients with gliomas and identified a cfDNA-derived methylation signature that is associated with the presence of gliomas and related immune features. By testing the signature in an independent discovery and validation cohorts, we developed and verified a score metric (the "glioma-epigenetic liquid biopsy score" or GeLB) that optimally distinguished patients with or without glioma (sensitivity: 100%, specificity: 97.78%). Furthermore, we found that changes in GeLB score reflected clinicopathological changes during surveillance (eg, progression, pseudoprogression, and response to standard or experimental treatment).
Conclusions:
Our results suggest that the GeLB score can be used as a complementary approach to diagnose and follow up patients with glioma.
