Epigenetic Control of Adamantinomatous Craniopharyngiomas
Authors' conclusion
Two clusters of patients with ACP were consistently revealed by unsupervised machine learning methods, with one of them significantly hypomethylated, enriched by CTNNB1 mutated ACPs, and associated with increased tumor size. Enrichment analysis reinforced pathways involved in tumor proliferation and in cell-specific tumoral microenvironment.
Study context
- Population
- Patients with adamantinomatous craniopharyngioma (ACP); 54% male; 18.1 years [2–68]
- Participants
- 35 patients
- Exposure
- ACP-2 vs ACP-1 methylation clusters
- ACP-2n = 17
- ACP-1n = 18reference
- Outcome
- Methylation clusters and clinical features
Methodological detailsunsupervised machine learning, hierarchical clustering, multidimensional scaling
- Unsupervised machine learning
- Hierarchical clustering
- Multidimensional scaling
Main finding
As reported in the abstract
- ACP-2 hypomethylated in CpG island, non-CpG island sites and globally
- P < .001
Observational data: associations, not effects.
Further findings
CTNNB1 mutations
P = 0.0006
Tumor size
P = 0.04
Gene Ontology enrichment
- Pathways on signaling transduction, transmembrane receptor, anatomical structure development, cell adhesion, cytoskeleton organization, cytokine binding; regulation of oligodendrocyte, keratinocyte and epithelial cell differentiation
Original publication
Epigenetic Control of Adamantinomatous Craniopharyngiomas. J Clin Endocrinol Metab. Published 5 January 2024. doi:10.
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