The genomic landscape of dysembryoplastic neuroepithelial tumours and a comprehensive analysis of recurrent cases

Mélanie Pagès , Marie-Anne Debily (1) , Frédéric Fina , David Jones , Raphael Saffroy , David Castel (1) , Thomas Blauwblomme , Alice Métais , Marie Bourgeois , Emmanuèle Lechapt-Zalcman , Arnault Tauziède-Espariat , Felipe Andreiuolo , Fabrice Chrétien , Jacques Grill (1, 2) , Nathalie Boddaert , Dominique Figarella‑branger (3) , Rameen Beroukhim , Pascale Varlet , Marie‐anne Debily

1 PMNCO - Prédicteurs moléculaires et nouvelles cibles en oncologie
2 Département de cancérologie de l'enfant et de l'adolescent [Gustave Roussy]
3 INP - Institut de neurophysiopathologie

Dysembryoplastic 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.

Mots clés: DNA methylation profiling; FGFR1; dysembryoplastic neuroepithelial tumours; glioneuronal tumours; molecular pathology; paediatric low-grade gliomas

Domaines: Sciences du Vivant [q-bio]; Cancer

Mélanie Pagès, Marie-Anne Debily, Frédéric Fina, David Jones, Raphael Saffroy, et al.. The genomic landscape of dysembryoplastic neuroepithelial tumours and a comprehensive analysis of recurrent cases. Neuropathology and Applied Neurobiology, 2022, 48 (6), pp.e12834. ⟨10.1111/nan.12834⟩. ⟨hal-03982369⟩