Correlación entre las alteraciones citogenéticas y moleculares de pacientes pediátricos con Leucemia Linfoblástica Aguda y los resultados de la quimioterapia de inducción. Hospital del Niño Dr. Francisco de Icaza Bustamante, período 2021 – 2024.

Abstract

Introduction: acute lymphoblastic leukemia (ALL) is the most common malignant neoplasm in childhood and exhibits marked biological heterogeneity. The identification of cytogenetic and molecular alterations, along with the assessment of minimal residual disease (MRD), is a key element for risk stratification and prediction of response to induction chemotherapy, allowing for the optimization of therapeutic strategies and improved prognosis. Objective: to determine if there is an association between cytogenetic and molecular alterations in pediatric patients with acute lymphoblastic leukemia and minimal residual disease at the end of induction therapy administered at the Dr. Francisco de Icaza Bustamante Children's Hospital during the period 2021–2024. Methodology: an observational, analytical, and retrospective study was conducted in pediatric patients diagnosed with ALL. Sociodemographic, immunophenotypic, cytogenetic, and molecular variables, as well as MRD at the end of induction therapy, were analyzed. Statistical analysis included descriptive statistics and chi-square tests for association, considering a significance level of p < 0.05. Results: common B-cell ALL was the predominant subtype. Most patients did not present cytogenetic or molecular abnormalities; however, the presence of specific abnormalities was associated with higher-risk groups. Undetectable MRD was significantly associated with complete remission, while positive MRD was associated with poor response to induction therapy, early relapse, and higher mortality (p < 0.001). Conclusions: cytogenetic and molecular abnormalities significantly influence the response to induction chemotherapy in pediatric ALL. MRD is established as a fundamental prognostic marker for risk stratification and personalized therapeutic decision-making.