ArticleNeuro-oncology advances
Clinical utility of whole-genome DNA methylation profiling as a primary molecular diagnostic assay for central nervous system tumors-A prospective study and guidelines for clinical testing.
Article in Neuro-oncology advances. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 32 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
32 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- DNA Methylation-Based Classification for Central Nervous System Tumours: A Health Technology Assessment.Ontario health technology assessment series · 2025Pooled it
- Dual Immune Check Point Blockade inJournal of clinical oncology : official journal of the American Society of Clinical Oncology · 2025Trial
- "Updates on diagnostic and prognostic molecular biomarkers of CNS tumors".Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2026Review
- DNA methylation profiling in central nervous system tumors: Where do we draw the line of clinical utility?World journal of experimental medicine · 2026Article
- High-Grade Astrocytoma With Piloid Features: An Aggressive Clinicogenomic Entity Distinct From Pilocytic Astrocytoma.Journal of Korean medical science · 2026Article
- Dramatic response to entrectinib in a rare glioneuronal tumor harboring an NTRK2 fusion.The oncologist · 2025Article
- Limitations of DNA Methylation Profiling in High-Grade Gliomas: Case Series.Diagnostics (Basel, Switzerland) · 2025Article
- Atypical Teratoid Rhabdoid Tumor: How Tumor Diagnostic Methods in the Laboratory Have Evolved over the Past 40 Years.Cancers · 2025Article
- DNA methylation profiling of pituitary neuroendocrine tumors identifies distinct clinical and pathological subtypes based on epigenetic differentiation.Neuro-oncology · 2025Article
- Race and "omic" data in glioma: A systematic review of contemporary research to explore the digital divide.Neuro-oncology practice · 2025Article
- Development and validation of a molecular classifier of meningiomas.Neuro-oncology · 2025Article
- Ultra-rapid droplet digital PCR enables intraoperative tumor quantification.Med (New York, N.Y.) · 2025Article
- Challenges in implementing 2021 WHO CNS tumor classification in a resource-limited setting.Neuro-oncology practice · 2025Article
- Predicting recurrence of meningioma using DNA methylation for clinical practice.Neuro-oncology · 2025Article
- Detection of Gene Fusions and Rearrangements in Formalin-Fixed, Paraffin-Embedded Solid Tumor Specimens Using High-Throughput Chromosome Conformation Capture.The Journal of molecular diagnostics : JMD · 2025Article
- Epigenomic insights and computational advances in hematologic malignancies.Molecular cytogenetics · 2025Review
- Molecular Testing for the World Health Organization Classification of Central Nervous System Tumors: A Review.JAMA oncology · 2025Review
- Deep learning-based classifier for carcinoma of unknown primary using methylation quantitative trait loci.Journal of neuropathology and experimental neurology · 2025Article
- DNA Methylation in Pituitary Adenomas: A Scoping Review.International journal of molecular sciences · 2025Article
- Methylation profiling in neuropathological tumors diagnosis: a comprehensive review.Frontiers in oncology · 2025Review
Corrections and comments
- Erratum issued
Authors and funding
62 authors at 20 institutions in 1 country.
Funding
Abstract
Background: Central nervous system (CNS) cancer is the 10th leading cause of cancer-associated deaths for adults, but the leading cause in pediatric patients and young adults. The variety and complexity of histologic subtypes can lead to diagnostic errors. DNA methylation is an epigenetic modification that provides a tumor type-specific signature that can be used for diagnosis. Methods: We performed a prospective study using DNA methylation analysis as a primary diagnostic method for 1921 brain tumors. All tumors received a pathology diagnosis and profiling by whole genome DNA methylation, followed by next-generation DNA and RNA sequencing. Results were stratified by concordance between DNA methylation and histopathology, establishing diagnostic utility. Results: Of the 1602 cases with a World Health Organization histologic diagnosis, DNA methylation identified a diagnostic mismatch in 225 cases (14%), 78 cases (5%) did not classify with any class, and in an additional 110 (7%) cases DNA methylation confirmed the diagnosis and provided prognostic information. Of 319 cases carrying 195 different descriptive histologic diagnoses, DNA methylation provided a definitive diagnosis in 273 (86%) cases, separated them into 55 methylation classes, and changed the grading in 58 (18%) cases. Conclusions: DNA methylation analysis is a robust method to diagnose primary CNS tumors, improving diagnostic accuracy, decreasing diagnostic errors and inconclusive diagnoses, and providing prognostic subclassification. This study provides a framework for inclusion of DNA methylation profiling as a primary molecular diagnostic test into professional guidelines for CNS tumors. The benefits include increased diagnostic accuracy, improved patient management, and refinements in clinical trial design.
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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.