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@ARTICLE{Arora:305575,
author = {S. Arora and N. Nuechterlein and M. Jensen and G. Glatzer
and P. Sievers$^*$ and S. Varadharajan and A. Korshunov$^*$
and F. Sahm$^*$ and S. C. Mack and M. D. Taylor and T.
Gujral and E. C. Holland},
title = {{I}ntegrated transcriptomic landscape of medulloblastoma
and ependymoma reveals novel tumor subtype-specific
biology.},
journal = {Neuro-Oncology},
volume = {nn},
issn = {1522-8517},
address = {Oxford},
publisher = {Oxford Univ. Press},
reportid = {DKFZ-2025-02237},
pages = {nn},
year = {2025},
note = {epub},
abstract = {Medulloblastoma and ependymoma are common pediatric central
nervous system tumors with significant molecular and
clinical heterogeneity. While molecular subgrouping has
enabled classification into molecular subtypes, the extent
of heterogeneity within these subgroups remains poorly
defined.We collected bulk RNA sequencing data from 888
medulloblastoma and 370 ependymoma tumors to establish a
comprehensive reference landscape. After rigorous batch
effect correction, normalization, and dimensionality
reduction, we generated a unified landscape to explore gene
expression, signaling pathways, RNA fusions, and copy number
variations.Our transcriptional analysis revealed distinct
clustering patterns, including two primary ependymoma
compartments, EPN-E1 and EPN-E2, each with specific RNA
fusions and molecular signatures. In medulloblastoma, we
observed precise stratification of Group 3/4 tumors by
subtype and in SHH tumors by patient age. We also identified
subtype-specific pathways and gene fusions, enriched in each
group.This transcriptomic landscape serves as a resource for
biomarker discovery, diagnostic refinement, and prediction
of tumor biology and outcome. By enabling projection of new
patients' bulk RNA-seq data onto the reference map using
nearest neighbor analysis, the framework supports accurate
subtype classification. The landscape is publicly available
via Oncoscape, an interactive platform for global
exploration and application.},
keywords = {RNA-Seq (Other) / copy number (Other) / gene fusions
(Other) / pathways (Other) / subtyping (Other)},
cin = {B300 / HD01},
ddc = {610},
cid = {I:(DE-He78)B300-20160331 / I:(DE-He78)HD01-20160331},
pnm = {312 - Funktionelle und strukturelle Genomforschung
(POF4-312)},
pid = {G:(DE-HGF)POF4-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:41159380},
doi = {10.1093/neuonc/noaf251},
url = {https://inrepo02.dkfz.de/record/305575},
}