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Updated: Dec 3, 2025

Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer
Published on: September 18, 2020
Evaluation of an Assay for MGMT Gene Promoter Methylation in Glioblastoma Samples
Martin Filipits1, Matthias Preusser2, Johannes A Hainfellner3
1Institute of Cancer Research, Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria martin.filipits@meduniwien.ac.at.
Background/Aim:
To compare the GeneXpert® O6-methylguanine DNA methyltransferase (MGMT) methylation prototype (GX MGMT) assay with pyrosequencing in glioblastomas.
Materials And Methods:
The MGMT methylation status was retrospectively assessed in formalin-fixed paraffin embedded (FFPE) tumor blocks from 262 glioblastoma patients obtained from three independent cohorts using either a standard of care pyrosequencing laboratory developed test or the GX MGMT assay.
Results:
The concordance rate was 92.1% (58/63) for Oregon Health and Science University (OSHU) samples, 91.7% (88/96) for Medical University of Vienna (MUV) samples, and 82.5% (85/103) for Kepler University Hospital (KUH) samples. Patients with MGMT promoter hypermethylation assessed by pyrosequencing or the GX MGMT test had a significantly longer overall survival compared to patients without hypermethylation (HR=0.43, 95%CI=0.26-0.72, p=0.001 and HR=0.51, 95%CI=0.31-0.84, p=0.008, respectively).
Conclusion:
Standardized, simplified, and on-demand testing of MGMT promoter methylation by the GX MGMT assay is feasible.

