ArticleNeuropathology and applied neurobiology2022
DNA methylation profiling improves routine diagnosis of paediatric central nervous system tumours: A prospective population-based study.
Article in Neuropathology and applied neurobiology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed.
- Methylation profiling in CNS tumor diagnostics: a single-centre real-world experience from Central Europe.Virchows Archiv : an international journal of pathology · 2026Article
- Time to adjuvant treatment for newly diagnosed pediatric brain tumors in the molecular era: a single center retrospective study.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Article
- Impact of Tissue Sampling Strategy on the Diagnostic Accuracy of DNA Methylation Profiling in Central Nervous System Tumors.Pathology international · 2026Article
- A Nationwide Central Diagnosis for Pediatric CNS Tumors in Japan: The JCCG Brain Tumor and Pathology Committees.Cancer science · 2026Article
- Molecular regulators of thromboinflammation and angiogenesis in pediatric cancer: emerging roles of noncoding RNAs, epigenetics, and extracellular vesicles - narrative review.Annals of medicine and surgery (2012) · 2026Review
- Bibliometric mapping of glioma classification research through main path, key route, and K-core analyses.Oncotarget · 2026Review
- Targeting aberrant DNA methylation across subtypes of pediatric high-grade glioma inhibits tumor growth and RUNX3 represents a targetable methylated tumor suppressor.Cell communication and signaling : CCS · 2026Article
- Molecular convergence enables precision medicine for pediatric low grade gliomas.Discover oncology · 2026Review
- 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
- Comprehensive characterization and targeted treatment of a pediatric epithelioid glioblastoma with a rare TRIM24-NTRK2 fusion.NPJ precision oncology · 2025Article
- The contribution of methylation profiling in neuropathological diagnosis of central nervous system tumors in children, adolescent and young adults.Pathologica · 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
- DNA methylation profiling for molecular classification of neuroblastoma.Clinical epigenetics · 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
- HOXD12 defines an age-related aggressive subtype of oligodendroglioma.Acta neuropathologica · 2024Article
- Refinement of prognostication for IDH-mutant astrocytomas using DNA methylation-based classification.Brain pathology (Zurich, Switzerland) · 2024Article
- Altered methylation of imprinted genes in neuroblastoma: implications for prognostic refinement.Journal of translational medicine · 2024Article
- The DNA methylome of pediatric brain tumors appears shaped by structural variation and predicts survival.Nature communications · 2024Article
- Non-C19MC-altered embryonal tumor with multilayered rosettes in a young woman with DICER1 syndrome: case report and review of the literature.Pathologica · 2024Review
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18 authors.
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Abstract
aimsPaediatric brain tumours are rare, and establishing a precise diagnosis can be challenging. Analysis of DNA methylation profiles has been shown to be a reliable method to classify central nervous system (CNS) tumours with high accuracy. We aimed to prospectively analyse CNS tumours diagnosed in Sweden, to assess the clinical impact of adding DNA methylation-based classification to standard paediatric brain tumour diagnostics in an unselected cohort.
methodsAll CNS tumours diagnosed in children (0-18 years) during 2017-2020 were eligible for inclusion provided sufficient tumour material was available. Tumours were analysed using genome-wide DNA methylation profiling and classified by the MNP brain tumour classifier. The initial histopathological diagnosis was compared with the DNA methylation-based classification. For incongruent results, a blinded re-evaluation was performed by an experienced neuropathologist.
resultsTwo hundred forty tumours with a histopathology-based diagnosis were profiled. A high-confidence methylation score of 0.84 or more was reached in 78% of the cases. In 69%, the histopathological diagnosis was confirmed, and for some of these also refined, 6% were incongruent, and the re-evaluation favoured the methylation-based classification. In the remaining 3% of cases, the methylation class was non-contributory. The change in diagnosis would have had a direct impact on the clinical management in 5% of all patients.
conclusionsIntegrating DNA methylation-based tumour classification into routine clinical analysis improves diagnostics and provides molecular information that is important for treatment decisions. The results from methylation profiling should be interpreted in the context of clinical and histopathological information.
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