The Evaluation of the Role of Several Genes (BUB1, BUB1B, and TOP2A) and the Related Signaling Pathway in the Pathogenesis of Acute Lymphocytic Leukemia (ALL): Combination of in Silico and Experimental Analysis

Background: Acute lymphoblastic leukemia (ALL) is one of the most common cancers in children, which causes the death of many patients. Nowadays, bioinformatics approaches are widely used to identify factors involved in the pathogenesis of diseases. Given the extent of molecular pathways and genes involved in these pathways, the use of bioinformatics approaches and the experimental validation of genes is essential. In this regard, we evaluated the roles of TOP2A, BUB1, and BUB1B genes in the biological processes of ALL, as well as their expression in malignant ALL cells. Materials and Methods: The present work is a bioinformatics and experimental study. The GSE102301 database was used in this study. After determining Differentially Expressed Genes (DEGs), cell lines were used to evaluate gene expression. The cell line used in this study was CCRF-CEM. The expression of TOP2A, BUB1, and BUB1B genes for validation was evaluated using real-time polymerase chain reaction (RT-PCR). Results: In this study, 72 DEGs were identified in ALL patients compared to the control subjects. Out of 4234 DEGs, 35 genes were up-regulated and 37 genes were down-regulated. The expression of BUB1, BUB1B, and TOP2A was increased in CCRF-CEM cells compared to peripheral blood mononuclear cells (PBMCs). The difference in the expression of these genes between the two cell types was statistically significant (p < 0.05). Conclusion: The findings suggest that BUB1, BUB1B, and TOP2A are significantly overexpressed in ALL cells and may play a role in the disease's pathogenesis. These genes warrant further investigation as potential biomarkers and prognostic indicators in ALL, especially in clinical patient cohorts.