ArticleNeuro-oncology2022
Impact of the methylation classifier and ancillary methods on CNS tumor diagnostics.
Article in Neuro-oncology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 66 papers, 2 of them syntheses that pooled it.
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Who cites it
66 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Pituitary Neuroendocrine Tumor or Pituitary Adenoma? Let's Ask the Epigenome!Endocrine pathology · 2025Pooled it
- DNA Methylation-Based Classification for Central Nervous System Tumours: A Health Technology Assessment.Ontario health technology assessment series · 2025Pooled it
- High-grade astrocytoma with piloid features: A clinical and genomic analysis of prognostic factors using a large cohort.Neuro-oncology · 2026Article
- Clinical evaluation of the CrossNN DNA methylation classifier for central nervous system tumors.Brain pathology (Zurich, Switzerland) · 2026Article
- Impact of Tissue Sampling Strategy on the Diagnostic Accuracy of DNA Methylation Profiling in Central Nervous System Tumors.Pathology international · 2026Article
- Methylation profiling and alternative classification approaches in a glioma-enriched FFPE stereotaxic biopsy cohort.Acta neuropathologica communications · 2026Article
- DNA methylation-based classification of hematolymphoid neoplasms.Blood advances · 2026Article
- CNS tumor type prevalence according to age group: An analysis of 21 000 cases confirmed by methylation profiling, with a focus on adolescents and young adults.Neuro-oncology · 2026Article
- A Nationwide Central Diagnosis for Pediatric CNS Tumors in Japan: The JCCG Brain Tumor and Pathology Committees.Cancer science · 2026Article
- Diffuse Midline Gliomas: Clinical, Diagnostic, and Therapeutic Perspectives.Biomedicines · 2026Review
- Review
- Intracranial mesenchymal tumor, FET::CREB fusion-positive: An integrative analysis of 81 cases.Neuro-oncology · 2026Article
- DNA methylation profiling in central nervous system tumors: Where do we draw the line of clinical utility?World journal of experimental medicine · 2026Article
- TET CpG sequence-context-specific DNA demethylation shapes progression of IDH-mutant gliomas.Cell reports. Medicine · 2026Article
- Report from the National Pediatric Cancer Foundation - infantile glioma and other non-embryonal central nervous system tumors: evolving molecular advances and current treatment landscape.Frontiers in oncology · 2026Review
- Capmatinib targeted therapy in MET-fusion driven radiation induced glioma.Frontiers in oncology · 2026Article
- Development, validation, and utility of a clinically applicable methylation classifier for recurrence risk prediction in meningiomas.Acta neuropathologica communications · 2025Article
- Limitations of DNA Methylation Profiling in High-Grade Gliomas: Case Series.Diagnostics (Basel, Switzerland) · 2025Article
- DNA Methylation-Based Classification of Kidney Neoplasms.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2025Article
- Use of DNA Methylation Profiling as a Molecular Classification Tool for Paediatric Central Nervous System Tumours: A Middle-Income Country Population-Based Study.Neuropathology and applied neurobiology · 2025Article
6 more citing papers are in PubMed but not listed here.
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30 authors.
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Abstract
backgroundAccurate CNS tumor diagnosis can be challenging, and methylation profiling can serve as an adjunct to classify diagnostically difficult cases.
methodsAn integrated diagnostic approach was employed for a consecutive series of 1258 surgical neuropathology samples obtained primarily in a consultation practice over 2-year period. DNA methylation profiling and classification using the DKFZ/Heidelberg CNS tumor classifier was performed, as well as unsupervised analyses of methylation data. Ancillary testing, where relevant, was performed.
resultsAmong the received cases in consultation, a high-confidence methylation classifier score (>0.84) was reached in 66.4% of cases. The classifier impacted the diagnosis in 46.7% of these high-confidence classifier score cases, including a substantially new diagnosis in 26.9% cases. Among the 289 cases received with only a descriptive diagnosis, methylation was able to resolve approximately half (144, 49.8%) with high-confidence scores. Additional methods were able to resolve diagnostic uncertainty in 41.6% of the low-score cases. Tumor purity was significantly associated with classifier score (P = 1.15e-11). Deconvolution demonstrated that suspected glioblastomas (GBMs) matching as control/inflammatory brain tissue could be resolved into GBM methylation profiles, which provided a proof-of-concept approach to resolve tumor classification in the setting of low tumor purity.
conclusionsThis work assesses the impact of a methylation classifier and additional methods in a consultative practice by defining the proportions with concordant vs change in diagnosis in a set of diagnostically challenging CNS tumors. We address approaches to low-confidence scores and confounding issues of low tumor purity.
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