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Updated: Dec 28, 2025

Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer

Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer

Published on: September 18, 2020

Brain tumour diagnostics using a DNA methylation-based classifier as a diagnostic support tool.

L P Priesterbach-Ackley¹, H B Boldt^2,3, J K Petersen^2,3

¹Department of Pathology, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.

Neuropathology and Applied Neurobiology

|February 20, 2020

Summary

This summary is machine-generated.

Methylation profiling (MP) refines central nervous system (CNS) tumor diagnoses, improving accuracy and WHO grading. Integrating MP with clinical data is key for reliable CNS tumor diagnostics.

Keywords:

central nervous system tumours diagnostics methylation profiling

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Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer

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Published on: January 9, 2019

Area of Science:

Neuro-oncology
Molecular Pathology
Cancer Diagnostics

Background:

Methylation profiling (MP) is increasingly used in diagnosing central nervous system (CNS) tumors across centers in The Netherlands and Scandinavia.
The integration of MP aims to support and enhance the accuracy of CNS tumor diagnostics.

Purpose of the Study:

To evaluate the benefits and challenges of using methylation profiling (MP) as a diagnostic support tool for CNS tumors.
To assess the impact of MP on refining initial pathological diagnoses and altering WHO tumor grades.

Main Methods:

Analysis of 502 CNS tumor samples using 850k methylation profiling (MP).
Matching MP profiles with the DKFZ/Heidelberg CNS Tumor Classifier.
Comparison of final pathological diagnoses with and without MP results.

Main Results:

MP confirmed initial diagnoses in 54.4% of cases, with 24.5% receiving a more refined diagnosis.
MP led to a new diagnosis in 9.8% of cases, altering the WHO grade in 71.4% of these.
A calibrated score <0.9 was observed in 33.7% of cases, indicating potential challenges in classification.

Conclusions:

Methylation profiling (MP) is a powerful tool for confirming, refining, and preventing misdiagnoses in CNS tumors.
Interpreting MP results requires integration with clinical, radiological, histopathological, and other molecular data for optimal diagnostic accuracy.