Preprint / Version 1

Gene Set Enrichment Analysis of an Osteosarcoma Dataset Reveals Potential Immune-Related Therapeutic Targets in Osteosarcoma

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  • Bragadheshwaran KK West-Windsor Plainsboro High School North

DOI:

https://doi.org/10.58445/rars.3277

Keywords:

Osteosarcoma (OS), Estradiol, Gene expression analysis

Abstract

Osteosarcoma (OS) is a rare but aggressive bone cancer with poor survival rates in metastatic cases. To explore potential therapeutic targets, we analyzed the GSE1153 gene expression dataset of U2OS osteosarcoma cells expressing estrogen receptor alpha (ERα) or beta (ERβ) treated with estradiol. Principal component analysis (PCA) was used to identify global expression patterns, and gene set enrichment analysis (GSEA) was applied to uncover biological pathways enriched in these data. The most enriched pathways were related to DNA repair and protein modification, including SUMOylation, homologous recombination, base excision repair, and resolution of abasic sites. These findings suggest that osteosarcoma cells may rely on enhanced DNA repair and stress-response mechanisms for survival, which could contribute to treatment resistance and represent potential therapeutic targets.

References

Stossi, F., Barnett, D. H., Frasor, J., Komm, B., Lyttle, C. R., & Katzenellenbogen, B. S. (2004). Transcriptional profiling of estrogen-regulated gene expression via estrogen receptor alpha or beta in human osteosarcoma cells. Endocrinology, 145(7), 3473–3486. https://doi.org/10.1210/en.2003-1704

Fabregat, A., et al. (2018). The Reactome pathway knowledgebase. Nucleic Acids Research, 46(D1), D649–D655. https://doi.org/10.1093/nar/gkx1132

Subramanian, A., et al. (2005). Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles. PNAS, 102(43), 15545–15550. https://doi.org/10.1073/pnas.0506580102

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Posted

2025-10-18