ArticlebioRxiv : the preprint server for biology2025
Characterization of aberrant splicing in pediatric central nervous system tumors reveals
Article in bioRxiv : the preprint server for biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Pediatric brain cancer is the leading cause of disease-related mortality in children, yet many aggressive tumors lack effective therapies. Aberrant RNA splicing is a hallmark of cancer, but its role in pediatric central nervous system (CNS) tumors remains underexplored. Methods: We analyzed 752 primary pediatric brain tumors spanning histologies and molecular subtypes to characterize aberrant splicing. We developed the Results: Clustering identified 11 splicing-defined groups, several enriched for distinct tumor types, though heterogeneity was observed across histologies. Cluster 6, with the poorest event-free survival, comprised multiple histologies and contained 39,528 aberrant splice events across 10,412 genes, including 8,369 single exon (SE) events overlapping known functional protein domains. Conclusions: This study maps splicing dysregulation in pediatric brain tumors, defines biologically- and clinically-relevant splicing-defined subgroups, and identifies
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