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Updated: Jan 20, 2026

Using Human Differentially Expressed Gene Lists to Perform Downstream Pathway Enrichment Analysis and Target Prioritization
Published on: October 3, 2025
Identification and Functional Enrichment Analysis of Potential Diagnostic and Therapeutic Targets in Adamantinomatous
Yang-Fan Zou1,2, Ling-Bing Meng3, Qing-Qing Wang4
1Department of Neurosurgery, Affiliated Navy Clinical College of Anhui Medical University, Beijing, P.R. China.
Abstract:
Adamantinomatous craniopharyngioma (ACP) is a congenital epithelial tumor in the sellar region with benign histological manifestation but invasive. Currently, surgery is the main treatment for it, but its recurrence rate is high. Therefore, it is of great importance to explore the mechanism of occurrence and development of ACP and to identify new molecules. One gene expression profile, GSE94349, was downloaded from the Gene Expression Omnibus (GEO) database. The differentially expressed genes (DEGs) were identified by the limma package. Gene set enrichment analysis was used to make enrichment analysis using Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG). Then, we performed the construction and analysis of the protein-protein interaction (PPI) network and significant module. The analysis of the GSE94349 dataset identified 109 DEGs, consisting of 80 upregulated genes and 29 downregulated genes in ACP samples compared with normal brain tissues. Functional and pathway enrichment analysis of DEGs provided a comprehensive overview of some major pathophysiological mechanisms in ACP: RNA polymerase II promoter, glutamate receptor binding, and so on. A total of 10 hub genes of DEGs were obtained from the PPI network, which provided potential therapeutic targets for the ACP. In summary, there were DEGs between ACP tissues and normal brain tissues, which may be involved in the mechanisms of occurrence and development of ACP, especially via the regulation of RNA polymerase II promoter and glutamate receptor binding. Key genes in DEGs could serve as new research targets for the diagnosis and treatment of ACP.
Insights
Adamantinomatous craniopharyngioma (ACP) is a rare tumor. This study identified key genes and pathways, like RNA polymerase II promoter and glutamate receptor binding, involved in ACP development, offering potential new therapeutic targets.
Area of Science:
- Neuro-oncology
- Molecular Biology
- Genomics
Background:
- Adamantinomatous craniopharyngioma (ACP) is a congenital sellar region tumor with high recurrence rates after surgery.
- Understanding ACP's molecular mechanisms is crucial for developing novel treatments.
Purpose of the Study:
- To identify differentially expressed genes (DEGs) in ACP.
- To explore the underlying molecular mechanisms and potential therapeutic targets for ACP.
Main Methods:
- Analyzed gene expression profile GSE94349 from the Gene Expression Omnibus (GEO) database.
- Identified DEGs using the limma package.
- Performed Gene Ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis, and constructed a protein-protein interaction (PPI) network.
Main Results:
- Identified 109 DEGs (80 upregulated, 29 downregulated) in ACP compared to normal brain tissue.
- Functional enrichment revealed involvement in RNA polymerase II promoter and glutamate receptor binding pathways.
- Discovered 10 hub genes within the PPI network as potential therapeutic targets.
Conclusions:
- DEGs play a significant role in ACP pathogenesis, particularly through RNA polymerase II promoter and glutamate receptor binding.
- Identified hub genes represent promising targets for future ACP diagnosis and treatment strategies.
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