ArticleNeuropathology and applied neurobiology2020
Brain tumour diagnostics using a DNA methylation-based classifier as a diagnostic support tool.
Article in Neuropathology and applied neurobiology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 71 papers, 3 of them syntheses that pooled it.
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Who cites it
71 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- DNA Methylation-Based Classification for Central Nervous System Tumours: A Health Technology Assessment.Ontario health technology assessment series · 2025Pooled it
- A systematic review of neuroimaging epigenetic research: calling for an increased focus on development.Molecular psychiatry · 2023Pooled 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
- Methylation profiling in CNS tumor diagnostics: a single-centre real-world experience from Central Europe.Virchows Archiv : an international journal of pathology · 2026Article
- 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 central nervous system tumors: Where do we draw the line of clinical utility?World journal of experimental medicine · 2026Article
- Limitations of DNA Methylation Profiling in High-Grade Gliomas: Case Series.Diagnostics (Basel, Switzerland) · 2025Article
- Conserved methylation signature accurately predicts heavily irradiated CNS tumour with perplexing histopathology: A case report.Biomedical reports · 2025Article
- Prospective, multicenter validation of a platform for rapid molecular profiling of central nervous system tumors.Nature medicine · 2025Article
- Epigenomic insights and computational advances in hematologic malignancies.Molecular cytogenetics · 2025Review
- Explainable artificial intelligence of DNA methylation-based brain tumor diagnostics.Nature communications · 2025Article
- Mapping the developmental trajectory of human astrocytes reveals divergence in glioblastoma.Nature cell biology · 2025Article
- Diagnostic impact of DNA methylation classification in adult and pediatric CNS tumors.Scientific reports · 2025Article
- Enhancing the accuracy of molecular classification of pediatric CNS tumors: a dual-classifier approach using DNA methylation profiling.Frontiers in oncology · 2025Article
- Methylation profiling in neuropathological tumors diagnosis: a comprehensive review.Frontiers in oncology · 2025Review
- Genome-wide methylation profiling differentiates benign from aggressive and metastatic pituitary neuroendocrine tumors.Acta neuropathologica · 2024Article
- Diffuse pediatric high-grade glioma of methylation-based RTK2A and RTK2B subclasses present distinct radiological and histomolecular features including Gliomatosis cerebri phenotype.Acta neuropathologica communications · 2024Article
- Running in the FAMILY: understanding and predicting the intergenerational transmission of mental illness.European child & adolescent psychiatry · 2024Article
- HOXD12 defines an age-related aggressive subtype of oligodendroglioma.Acta neuropathologica · 2024Article
- Gliomatosis cerebri in children: A poor prognostic phenotype of diffuse gliomas with a distinct molecular profile.Neuro-oncology · 2024Article
11 more citing papers are in PubMed but not listed here.
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16 authors.
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Abstract
aimsMethylation profiling (MP) is increasingly incorporated in the diagnostic process of central nervous system (CNS) tumours at our centres in The Netherlands and Scandinavia. We aimed to identify the benefits and challenges of MP as a support tool for CNS tumour diagnostics.
methodsAbout 502 CNS tumour samples were analysed using (850 k) MP. Profiles were matched with the DKFZ/Heidelberg CNS Tumour Classifier. For each case, the final pathological diagnosis was compared to the diagnosis before MP.
resultsIn 54.4% (273/502) of all analysed cases, the suggested methylation class (calibrated score ≥0.9) corresponded with the initial pathological diagnosis. The diagnosis of 24.5% of these cases (67/273) was more refined after incorporation of the MP result. In 9.8% of cases (49/502), the MP result led to a new diagnosis, resulting in an altered WHO grade in 71.4% of these cases (35/49). In 1% of cases (5/502), the suggested class based on MP was initially disregarded/interpreted as misleading, but in retrospect, the MP result predicted the right diagnosis for three of these cases. In six cases, the suggested class was interpreted as 'discrepant but noncontributory'. The remaining 33.7% of cases (169/502) had a calibrated score <0.9, including 7.8% (39/502) for which no class indication was given at all (calibrated score <0.3).
conclusionsMP is a powerful tool to confirm and fine-tune the pathological diagnosis of CNS tumours, and to avoid misdiagnoses. However, it is crucial to interpret the results in the context of clinical, radiological, histopathological and other molecular information.
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