DNA methylation profiling in central nervous system tumours

The classification and management of central nervous system (CNS) tumours have undergone substantial transformation over the past two decades, with the recognition of an expanding set of molecularly defined disease entities. Genome-wide DNA methylation profiling has emerged as an important complement to histopathology and targeted molecular testing, providing an epigenetic framework that captures tumour lineage, biological state and large-scale genomic alterations within a single assay. Accumulating evidence demonstrates that methylation-based approaches improve diagnostic precision, resolve biologically heterogeneous entities and support clinically meaningful risk stratification across a broad spectrum of CNS tumours. Methylation profiling has also increasingly been applied to outcome prediction, liquid biopsy-based analyses and the resolution of diagnostically challenging or misclassified cases. In addition, advances in multi-omic integration, computational inference from routinely acquired clinical data and evolving implementation frameworks are extending the clinical applicability of epigenetic profiling. This review synthesises the current state of DNA methylation profiling within the diagnostic and clinical framework of CNS tumours and considers how emerging technologies and practice models are shaping its ongoing integration into neuro-oncological care.

Authors

Institutions

Publication Details

Journal
Journal of Neurology Neurosurgery & Psychiatry
Published
2026-04-15
DOI
https://doi.org/10.1136/jnnp-2025-337691
Primary Topic
Glioma Diagnosis and Treatment
Type
article
Field-Weighted Citation Impact
0.00
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

DNA methylation profiling in central nervous system tumours

Muhammed Amir Essibayi, Andrew Ajisebutu, Yosef Ellenbogen, Alexander Landry et al.
Journal of Neurology Neurosurgery & Psychiatry
Glioma Diagnosis and Treatment
article

DNA methylation profiling in central nervous system tumours

Muhammed Amir Essibayi, Andrew Ajisebutu, Yosef Ellenbogen, Alexander Landry, Chloe Gui, Phooja Persaud, Gelareh Zadeh, Kenneth Aldape, Leeor S Yefet, Farshad Nassiri
article en

Abstract

The classification and management of central nervous system (CNS) tumours have undergone substantial transformation over the past two decades, with the recognition of an expanding set of molecularly defined disease entities. Genome-wide DNA methylation profiling has emerged as an important complement to histopathology and targeted molecular testing, providing an epigenetic framework that captures tumour lineage, biological state and large-scale genomic alterations within a single assay. Accumulating evidence demonstrates that methylation-based approaches improve diagnostic precision, resolve biologically heterogeneous entities and support clinically meaningful risk stratification across a broad spectrum of CNS tumours. Methylation profiling has also increasingly been applied to outcome prediction, liquid biopsy-based analyses and the resolution of diagnostically challenging or misclassified cases. In addition, advances in multi-omic integration, computational inference from routinely acquired clinical data and evolving implementation frameworks are extending the clinical applicability of epigenetic profiling. This review synthesises the current state of DNA methylation profiling within the diagnostic and clinical framework of CNS tumours and considers how emerging technologies and practice models are shaping its ongoing integration into neuro-oncological care.

Journal of Neurology Neurosurgery & Psychiatry
Albert Einstein College of Medicine (US), University Health Network (CA), Mayo Clinic (US), Fırat University (TR), Mayo Clinic in Arizona (US), Mayo Clinic in Florida (US)
Industry, innovation and infrastructure
Openalex Percentile: Top 19%
Glioma Diagnosis and Treatment
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.