Análisis diferencial de la expresión génica en LLA-B, mediante bioinformática, para la identificación de genes de interés clínico

Abstract

B-cell acute lymphoblastic leukemia (B-ALL) is a hematologic cancer whose response to treatment varies between pediatric and adult patients, making it difficult to identify clinically useful biomarkers. This research focused on comparing gene expression profiles in patients with B-ALL in remission, non-remission and drug-resistant samples (methotrexate, corticosteroids and blinatumomab) with the aim of identifying prognostically relevant genes and therapeutic resistance. Five transcriptomic datasets were selected from the GEO repository, applying specific inclusion criteria, and differential expression analyses were performed using GEO2R, RStudio, Venn diagrams, UpSet plots and functional enrichment approaches (ORA and GSEA). The results allowed the identification of differentially expressed genes common among series and molecular pathways associated with B-ALL biology, highlighting the efficacy of integrating microarray and RNA-seq data. The most relevant findings include ACTA2 in the pediatric population and GFI1 in the adult population, in addition to other genes such as CHN1, HMGCS1 and RNUGATAC, which could be explored in future studies. In conclusion, this study shows that the combination of systematic search strategies, bioinformatics analysis and differential gene expression allows the identification of genes and pathways of interest, providing a solid basis for the identification of potential biomarkers of interest in clinical prognosis.