ArticleActa neuropathologica communications2019
Methylation array profiling of adult brain tumours: diagnostic outcomes in a large, single centre.
Article in Acta neuropathologica communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 114 papers, 4 of them syntheses that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
114 citing papers in PubMed, 4 syntheses or guidelines pooled it, 175 citations in OpenAlex.
- DNA Methylation-Based Classification for Central Nervous System Tumours: A Health Technology Assessment.Ontario health technology assessment series · 2025Pooled it
- Diagnostic accuracy of 1p/19q codeletion tests in oligodendroglioma: A comprehensive meta-analysis based on a Cochrane systematic review.Neuropathology and applied neurobiology · 2022Pooled it
- Diagnostic test accuracy and cost-effectiveness of tests for codeletion of chromosomal arms 1p and 19q in people with glioma.The Cochrane database of systematic reviews · 2022Pooled it
- cIMPACT-NOW update 6: new entity and diagnostic principle recommendations of the cIMPACT-Utrecht meeting on future CNS tumor classification and grading.Brain pathology (Zurich, Switzerland) · 2020Guideline
- Interpretable prototype learning for EGFR amplification prediction from whole-slide images in glioblastoma.Journal of pathology informatics · 2026Article
- Complementary use of the DNA methylation-based tumor classification by the Bethesda v3 classifier in routine diagnostics: evaluation in a series of 516 cases.Acta neuropathologica · 2026Article
- Methylation profiling in CNS tumor diagnostics: a single-centre real-world experience from Central Europe.Virchows Archiv : an international journal of pathology · 2026Article
- Shining a light on brain tumors: a review of Raman spectroscopy in the operating room.Journal of biomedical optics · 2026Review
- Impact of Tissue Sampling Strategy on the Diagnostic Accuracy of DNA Methylation Profiling in Central Nervous System Tumors.Pathology international · 2026Article
- DNA Methylation Profiling in IDH-Mutant Gliomas: Biological Evolution, Molecular Grading and Clinical Implementation.Neuropathology and applied neurobiology · 2026Review
- Methylation profiling and alternative classification approaches in a glioma-enriched FFPE stereotaxic biopsy cohort.Acta neuropathologica communications · 2026Article
- Long-read sequencing technologies and bioinformatics: a new perspective for decoding DNA methylation modifications.Journal of translational medicine · 2026Review
- Hetairos is a histology-based artificial intelligence model for predicting central nervous system tumor methylation subtypes.Nature cancer · 2026Article
- Review
- Clinical, radiological, and molecular insights into extracranial metastases from adult gliomas.Neuro-oncology · 2026Article
- The Clinical Utility of Cell-Free DNA in Brain Tumor Management: A Comprehensive Review.Journal of molecular neuroscience : MN · 2025Review
- Co-detection of mutations and methylations in cerebrospinal fluid ctdna for minimally-invasive diagnosis of brainstem glioma.Journal of experimental & clinical cancer research : CR · 2025Article
- ROBIN: A unified nanopore-based assay integrating intraoperative methylome classification and next-day comprehensive profiling for ultra-rapid tumor diagnosis.Neuro-oncology · 2025Article
- DNA methylation analysis reveals an epigenetic signature distinctive of high-grade oligodendroglioma.Acta neuropathologica · 2025Article
- Liquid Biopsy and Epigenetic Signatures in AML, ALL, and CNS Tumors: Diagnostic and Monitoring Perspectives.International journal of molecular sciences · 2025Review
54 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
Abstract
The introduction of the classification of brain tumours based on their DNA methylation profile has significantly changed the diagnostic approach for cases with ambiguous histology, non-informative or contradictory molecular profiles or for entities where methylation profiling provides useful information for patient risk stratification, for example in medulloblastoma and ependymoma. We present our experience that combines a conventional molecular diagnostic approach with the complementary use of a DNA methylation-based classification tool, for adult brain tumours originating from local as well as national referrals. We report the frequency of IDH mutations in a large cohort of nearly 1550 patients, EGFR amplifications in almost 1900 IDH-wildtype glioblastomas, and histone mutations in 70 adult gliomas. We demonstrate how additional methylation-based classification has changed and improved our diagnostic approach. Of the 325 cases referred for methylome testing, 179 (56%) had a calibrated score of 0.84 and higher and were included in the evaluation. In these 179 samples, the diagnosis was changed in 45 (25%), refined in 86 (48%) and confirmed in 44 cases (25%). In addition, the methylation arrays contain copy number information that usefully complements the methylation profile. For example, EGFR amplification which is 95% concordant with our Real-Time PCR-based copy number assays. We propose here a diagnostic algorithm that integrates histology, conventional molecular tests and methylation arrays.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.