ArticleActa neuropathologica2018
Comprehensive molecular characterisation of epilepsy-associated glioneuronal tumours.
Article in Acta neuropathologica, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.
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Who cites it
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 74 citations in OpenAlex.
- Epilepsy in NF1: a systematic review of the literature.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Pooled it
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- The molecular landscape of glioblastoma-associated epilepsy.Journal of molecular medicine (Berlin, Germany) · 2025Review
- Somatic DNA Variants in Epilepsy Surgery Brain Samples from Patients with Lesional Epilepsy.International journal of molecular sciences · 2025Article
- Single-nucleus RNA sequencing: immature excitatory neurons and transformed glia build human BRAFBrain communications · 2025Article
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- Extra-temporal pediatric low-grade gliomas and epilepsy.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Review
- Paediatric low-grade glioma: the role of classical pathology in integrated diagnostic practice.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Review
- Ganglioglioma with anaplastic/high-grade transformation: Histopathologic, molecular, and epigenetic characterization of 3 cases.Journal of neuropathology and experimental neurology · 2024Article
- Clinical, pathologic, and genomic characteristics of two pediatric glioneuronal tumors with a CLIP2::MET fusion.Acta neuropathologica communications · 2024Article
- Three Years of Progression-free after Biopsy of BRAF V600E-negative Ganglioglioma in the Adult Brainstem: A Case Report and the Literature Review.NMC case report journal · 2024Article
- Genotype-relevant neuroimaging features in low-grade epilepsy-associated tumors.Frontiers in neurology · 2024Article
- Enrichment of oligodendrocyte precursor phenotypes in subsets of low-grade glioneuronal tumours.Brain communications · 2024Article
- Neuropathology and epilepsy surgery - 2024 update.Free neuropathology · 2024Article
- DNA methylation-based classification of glioneuronal tumours synergises with histology and radiology to refine accurate molecular stratification.Neuropathology and applied neurobiology · 2023Article
- Genomic analysis as a tool to infer disparate phylogenetic origins of dysembryoplastic neuroepithelial tumors and their satellite lesions.Scientific reports · 2023Article
- Glioneuronal and Neuronal Tumors of the Central Nervous System.Advances in experimental medicine and biology · 2023Article
- Distinct DNA Methylation Patterns of Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex.Cellular and molecular neurobiology · 2022Article
- Transcriptomic profiling of nonneoplastic cortical tissues reveals epileptogenic mechanisms in dysembryoplastic neuroepithelial tumors.Functional & integrative genomics · 2022Article
- The genomic landscape of dysembryoplastic neuroepithelial tumours and a comprehensive analysis of recurrent cases.Neuropathology and applied neurobiology · 2022Article
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Authors and funding
20 authors at 6 institutions in 2 countries.
Funding
Abstract
Glioneuronal tumours are an important cause of treatment-resistant epilepsy. Subtypes of tumour are often poorly discriminated by histological features and may be difficult to diagnose due to a lack of robust diagnostic tools. This is illustrated by marked variability in the reported frequencies across different epilepsy surgical series. To address this, we used DNA methylation arrays and RNA sequencing to assay the methylation and expression profiles within a large cohort of glioneuronal tumours. By adopting a class discovery approach, we were able to identify two distinct groups of glioneuronal tumour, which only partially corresponded to the existing histological classification. Furthermore, by additional molecular analyses, we were able to identify pathogenic mutations in BRAF and FGFR1, specific to each group, in a high proportion of cases. Finally, by interrogating our expression data, we were able to show that each molecular group possessed expression phenotypes suggesting different cellular differentiation: astrocytic in one group and oligodendroglial in the second. Informed by this, we were able to identify CCND1, CSPG4, and PDGFRA as immunohistochemical targets which could distinguish between molecular groups. Our data suggest that the current histological classification of glioneuronal tumours does not adequately represent their underlying biology. Instead, we show that there are two molecular groups within glioneuronal tumours. The first of these displays astrocytic differentiation and is driven by BRAF mutations, while the second displays oligodendroglial differentiation and is driven by FGFR1 mutations.
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