PSEN1 Expression Identifies a Developmentally Distinct Favourable-Prognosis State in SHH α Medulloblastoma.
Overview
- Cancer and Neurobiology Laboratory, Experimental Research Center, Clinical Hospital (CPE‐HCPA) Federal University of Rio Grande do Sul Porto Alegre Brazil
- National Science and Technology Institute for Children's Cancer Biology and Pediatric Oncology—INCT BioOncoPed Porto Alegre Brazil
- Department of Biology Edge Hill University Ormskirk UK
- Children's Cancer Institute (ICI) Porto Alegre Brazil
- Department of Pharmacology, Institute for Basic Health Sciences Federal University of Rio Grande do Sul Porto Alegre Brazil
- Center for Biotechnology Federal University of Rio Grande do Sul Porto Alegre Brazil
Abstract
Background: Although PSEN1 is best known for its role in Alzheimer's disease, it also regulates neural development and cerebellar morphogenesis. Medulloblastoma (MB) is the most common malignant paediatric brain tumour and arises from disrupted cerebellar developmental programmes. The clinical significance of PSEN1 in MB remains unknown. We investigated the prognostic value and transcriptional correlates of PSEN1 expression across molecular subgroups and subtypes of MB.
Methods: Public bulk and single‐cell transcriptomic datasets were used to examine PSEN1 expression, associations with overall survival (OS) and transcriptional correlates in MB. The SHH α‐associated transcriptional pattern was evaluated in an independent cohort, and PSEN1 expression was further examined in the developing human cerebellum and across paediatric brain tumour types. Genes strongly correlated with PSEN1 in SHH α MB were subjected to gene ontology (GO) enrichment analysis.
Results: High PSEN1 expression was consistently associated with significantly longer OS exclusively in SHH α MB. The PSEN1‐associated transcriptional pattern was reproduced in an independent SHH α cohort. PSEN1 was expressed across developing cerebellar cell populations and paediatric brain tumour types, with MB showing intermediate expression among the tumour entities examined. In SHH α MB, PSEN1 was associated with a coordinated transcriptional programme enriched for RNA homeostasis, intracellular membrane trafficking, protein quality control, lipid and calcium signalling and developmental pathways.
Conclusions: High PSEN1 expression identifies a favourable‐prognosis subset of SHH α MB and is associated with a distinct transcriptional programme related to endomembrane organization and cellular homeostasis rather than canonical SHH signalling. These findings suggest that PSEN1 may mark a developmentally distinct tumour state and generate new hypotheses regarding subtype‐specific developmental programmes in MB.
Reproduced under the paper's license (CC BY), from the paper cited above.
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Data
Datasets cited
- arrayexpress:E-MTAB-6814
, at ArrayExpress; found in “Data Availability Statement” - geo:GSE202043, at NCBI GEO; found in “Data Availability Statement”
Data Availability Statement
The tumour dataset used in this study is available in the Gene Expression Omnibus (GEO) repository, accession numbers GSE202043, https://
Reproduced under the paper's license (CC BY), from the paper cited above.
Versions
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Version 1, 1 October 2026: the first record
Recorded: type, language, journal, volume, issue, pages, dates, 7 authors, 6 keywords, 11 MeSH terms, 2 funders, 38 references.
Cite
This paper
Vanini, J., Thomaz, A., Lupatini, M. M., Brunetto, A. T., de Farias, C. B., Jaeger, M., & Roesler, R. (2026). PSEN1 Expression Identifies a Developmentally Distinct Favourable-Prognosis State in SHH α Medulloblastoma. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience, 86(6), e70178. https://
BibTeX
@article{vanini2026psen1
author = {Vanini, Julia and Thomaz, Amanda and Lupatini, Marina Müller and Brunetto, André T. and de Farias, Caroline Brunetto and Jaeger, Mariane and Roesler, Rafael},
title = {{PSEN1 Expression Identifies a Developmentally Distinct Favourable-Prognosis State in SHH α Medulloblastoma}},
journal = {International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience},
year = {2026},
month = oct,
volume = {86},
number = {6},
pages = {e70178},
publisher = {Wiley},
issn = {0736-5748},
doi = {10.1002/
url = {https://
pmid = {42735931},
pmcid = {PMC13574531}
}
RIS
TY - JOUR
AU - Vanini, Julia
AU - Thomaz, Amanda
AU - Lupatini, Marina Müller
AU - Brunetto, André T.
AU - de Farias, Caroline Brunetto
AU - Jaeger, Mariane
AU - Roesler, Rafael
TI - PSEN1 Expression Identifies a Developmentally Distinct Favourable-Prognosis State in SHH α Medulloblastoma
T2 - International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
J2 - Int J Dev Neurosci
PY - 2026
DA - 2026/
VL - 86
IS - 6
SP - e70178
SN - 0736-5748
PB - Wiley
DO - 10.1002/
UR - https://
LA - en
ER -
CSL-JSON
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