Date of Completion

Spring 4-28-2023

Thesis Advisor(s)

Joseph LoTurco

Honors Major

Physiology and Neurobiology


Ependymoma (EPN) is a group of central nervous system tumors most commonly observed in young children. EPN is characterized by high intratumoral cellular heterogeneity meaning the cell population within a single tumor is extremely diverse, which makes understanding the disease more complex. Furthermore, different subtypes of EPN have been identified as more or less favorable in terms of prognosis. For example, posterior fossa group A (PF-A) and supratentorial EPN with ZFTA-RELA fusions (ST-RELA) have been identified as the more aggressive groups in young children. Mouse models have been established to further understand the cellular profile of human ependymoma tumors. Much of the existing data suggesting potential driver genes for EPN are derived from mouse models. Although these mouse models display similar tumors and transcriptomic profiles when compared to human EPN, the tumors do not match exactly. A potential factor for this variance could be the different cellular constituents present in mice versus humans. One way to obtain a higher resolution comparison is to study single-cell RNA sequencing data from human patients and mouse models. Single-cell RNA sequencing data can be used to determine similarities and differences in gene expression levels between normal and mutated cell populations. This paper aims to investigate how single-cell RNA sequencing data compares between human EPN, specifically the ST-RELA subtype, and mouse models, to identify similarities or differences in the genes expressed in each population. Gene Ontology analysis, comparing the differentially expressed genes to background gene lists can determine enriched biological processes and molecular functions in the tumor cell populations. It is hypothesized that data analysis will result in an overlap in differential expression of specific genes as well as in enrichment of biological pathways and molecular functions across the human ST-RELA samples and the mouse model.