Single-nucleus RNA sequencing: Immature excitatory neurons and transformed glia build human BRAFV600E-negative gangliogliomas
Cases-Cunillera S, Müller P, Van Waardenberg AJ, Schoch S, Huberfeld G, Höllig A, Delev D, Hamed M, Becker AJ, Van Loo KM (2025)
Publication Type: Journal article
Publication year: 2025
Journal
Book Volume: 7
Article Number: fcaf372
Journal Issue: 5
DOI: 10.1093/braincomms/fcaf372
Abstract
Gangliogliomas are glioneuronal neoplasms, generally with a benign evolution, accounting for the most common tumours in patients with long-term pharmacoresistant epilepsy. BRAFV600E has been detected in a high percentage of World Health Organization grade 1 gangliogliomas. However, biopsy collections from epilepsy patients include tumours that meet neuropathological ganglioglioma criteria but lack the BRAFV600E mutation. The molecular pathology of such BRAFV600E-negative gangliogliomas remains largely unexplored. We here focused on decoding the molecular and cellular profiles of these BRAFV600E-negative gangliogliomas at the single-cell resolution. Our results identify an exclusive profile in excitatory, but not inhibitory, neurons, astrocytes and oligodendrocytes in BRAFV600E-negative gangliogliomas. Moreover, we confirm the presence of immature excitatory neurons with higher expression of genes related to glutamatergic transmission as well as metabolically active astro- and oligodendrocytes which may contribute to epileptogenicity. Our study provides important resources to understand the molecular profile of BRAFV600E-negative gangliogliomas aiming to drive forward future research directions to novel and tailored treatment options for epilepsy.
Involved external institutions
Université Paris Cité
France (FR)
Rheinische Friedrich-Wilhelms-Universität Bonn
Germany (DE)
Universitätsklinikum Aachen (UKA)
Germany (DE)
Universitätsklinikum Bonn
Germany (DE)
France (FR)
Rheinische Friedrich-Wilhelms-Universität Bonn
Germany (DE)
Universitätsklinikum Aachen (UKA)
Germany (DE)
Universitätsklinikum Bonn
Germany (DE)
How to cite
APA:
Cases-Cunillera, S., Müller, P., Van Waardenberg, A.J., Schoch, S., Huberfeld, G., Höllig, A.,... Van Loo, K.M. (2025). Single-nucleus RNA sequencing: Immature excitatory neurons and transformed glia build human BRAFV600E-negative gangliogliomas. Brain Communications, 7(5). https://doi.org/10.1093/braincomms/fcaf372
MLA:
Cases-Cunillera, Silvia, et al. "Single-nucleus RNA sequencing: Immature excitatory neurons and transformed glia build human BRAFV600E-negative gangliogliomas." Brain Communications 7.5 (2025).
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