ReviewVirchows Archiv : an international journal of pathology2024
Molecular neuropathology: an essential and evolving toolbox for the diagnosis and clinical management of central nervous system tumors.
Review in Virchows Archiv : an international journal of pathology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Metabolic Imaging as Future Technology and Innovation in Brain-Tumour Surgery: A Systematic Review.Current oncology (Toronto, Ont.) · 2025Pooled it
- Diagnostic Pitfalls of Oligodendroglioma-like Morphology: Integrated Reappraisal of 23 Non-Oligodendroglial Central Nervous System Tumors.Diagnostics (Basel, Switzerland) · 2026Article
- The New Tumor Predisposition Syndromes with Neuro-Oncological Relevance-A Comprehensive Review for Neuroradiologists.Clinical neuroradiology · 2026Review
- Hetairos is a histology-based artificial intelligence model for predicting central nervous system tumor methylation subtypes.Nature cancer · 2026Article
- A MAGIBU-based model for pediatric and juvenile CNS tumors: an in-house epigenetic decision-support framework compared with online DNA methylation classifiers.Free neuropathology · 2026Article
- Limitations of DNA Methylation Profiling in High-Grade Gliomas: Case Series.Diagnostics (Basel, Switzerland) · 2025Article
- Ultra-Fast IntraoperativeInternational journal of molecular sciences · 2025Article
- Conserved methylation signature accurately predicts heavily irradiated CNS tumour with perplexing histopathology: A case report.Biomedical reports · 2025Article
- Challenges in implementing 2021 WHO CNS tumor classification in a resource-limited setting.Neuro-oncology practice · 2025Article
- The state of targeted therapeutic pharmacological approaches in pediatric neurosurgery: report from the European Society for Pediatric Neurosurgery (ESPN) Consensus Conference 2024.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2025Review
- Methylation profiling in neuropathological tumors diagnosis: a comprehensive review.Frontiers in oncology · 2025Review
- Integrating molecular profiling into glioma diagnosis: implications of the WHO-CNS5-2021 classification of adult-type diffuse gliomas in Colombian patients.Frontiers in neurology · 2025Article
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Molecular profiling has transformed the diagnostic workflow of CNS tumors during the last years. The latest WHO classification of CNS tumors (5th edition), published in 2021, pushed forward the integration between histopathological features and molecular hallmarks to achieve reproducible and clinically relevant diagnoses. To address these demands, pathologists have to appropriately deal with multiple molecular assays mainly including DNA methylation profiling and DNA/RNA next generation sequencing. Tumor classification by DNA methylation profiling is now a critical tool for many diagnostic tasks in neuropathology including the assessment of complex cases, to evaluate novel tumor types and to perform tumor subgrouping in hetereogenous entities like medulloblastoma or ependymoma. DNA/RNA NGS allow the detection of multiple molecular alterations including single nucleotide variations, small insertions/deletions (InDel), and gene fusions. These molecular markers can provide key insights for diagnosis, for example, if a tumor-specific mutation is detected, but also for treatment since targeted therapies are progressively entering the clinical practice. In the present review, a brief, but comprehensive overview of these tools will be provided, discussing their technical specifications, diagnostic value, and potential limitations. Moreover, the importance of molecular profiling will be shown in a representative series of CNS neoplasms including both the most frequent tumor types and other selected entities for which molecular characterization plays a critical role.
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