ArticleNeuropathology and applied neurobiology2022
The genomic landscape of dysembryoplastic neuroepithelial tumours and a comprehensive analysis of recurrent cases.
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 7 papers.
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Who cites it
7 citing papers in PubMed, 13 citations in OpenAlex.
- Rare IDH hotspot mutations in dysembryoplastic neuroepithelial tumors expand the spectrum of IDH-altered CNS tumors.Acta neuropathologica · 2025Article
- Molecular Landscape of Pediatric Low-Grade Gliomas: Insights From RNA-NGS and Bioinformatic Analysis.Genes, chromosomes & cancer · 2025Article
- Phenotypic and epigenetic heterogeneity in FGFR2-fused glial and glioneuronal tumours.Neuropathology and applied neurobiology · 2024Article
- Glioneuronal tumor with ATRX alteration, kinase fusion and anaplastic features (GTAKA): a molecularly distinct brain tumor type with recurrent NTRK gene fusions.Acta neuropathologica · 2023Article
- Clinico-pathological and epigenetic heterogeneity of diffuse gliomas with FGFR3::TACC3 fusion.Acta neuropathologica communications · 2023Article
- Long-Term Seizure Outcomes and Predictors in Patients with Dysembryoplastic Neuroepithelial Tumors Associated with Epilepsy.Brain sciences · 2022Article
- The genomic landscape of dysembryoplastic neuroepithelial tumours and a comprehensive analysis of recurrent cases.Neuropathology and applied neurobiology · 2022Article
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18 authors at 10 institutions in 4 countries.
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Abstract
aimsDysembryoplastic neuroepithelial tumour (DNT) is a glioneuronal tumour that is challenging to diagnose, with a wide spectrum of histological features. Three histopathological patterns have been described: specific DNTs (both the simple form and the complex form) comprising the specific glioneuronal element, and also the non-specific/diffuse form which lacks it, and has unclear phenotype-genotype correlations with numerous differential diagnoses.
methodsWe used targeted methods (immunohistochemistry, fluorescence in situ hybridisation and targeted sequencing) and large-scale genomic methodologies including DNA methylation profiling to perform an integrative analysis to better characterise a large retrospective cohort of 82 DNTs, enriched for tumours that showed progression on imaging.
resultsWe confirmed that specific DNTs are characterised by a single driver event with a high frequency of FGFR1 variants. However, a subset of DNA methylation-confirmed DNTs harbour alternative genomic alterations to FGFR1 duplication/mutation. We also demonstrated that a subset of DNTs sharing the same FGFR1 alterations can show in situ progression. In contrast to the specific forms, "non-specific/diffuse DNTs" corresponded to a heterogeneous molecular group encompassing diverse, newly-described, molecularly distinct entities.
conclusionsSpecific DNT is a homogeneous group of tumours sharing characteristics of paediatric low-grade gliomas: a quiet genome with a recurrent genomic alteration in the RAS-MAPK signalling pathway, a distinct DNA methylation profile and a good prognosis but showing progression in some cases. The "non-specific/diffuse DNTs" subgroup encompasses various recently described histomolecular entities, such as PLNTY and diffuse astrocytoma, MYB or MYBL1 altered.
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