Cancer is the second leading cause of childhood mortality despite continuous advances in early detection, diagnostic techniques, and treatment. Precursor B-cell acute lymphoblastic leukemia (B-ALL) is the most frequent childhood neoplasm, accounting for 30% of the total and 82.5% of all leukemias. Its negative impact on the psychosocial and family environment of patients, along with treatment side effects, relapses, and the high mortality risk, make it a public health problem.
Improving clinical outcomes in pediatric patients with B-ALL requires the availability of reliable predictive variables for survival probability. Prognostic factors include clinical, cytogenetic, molecular variables, and morphological markers of treatment response. However, genomic alterations in leukemic cells and markers of response to remission induction therapy are factors impacting all research.
The term biomarker defines indicators of a normal biological process, a pathological process, or a response to a therapeutic intervention, which can be detected or quantified in a specific tissue or organ. They are generally classified according to the technique used for their determination into cytogenetic, molecular, morphological, radiological, or immunological biomarkers. In B-ALL, biomarkers play a fundamental role in prognostic stratification and in therapy tailored to individual risk of survival and relapse.
A retrospective, multicenter cohort study was conducted from January 2012 to December 2020 on 84 patients to evaluate the influence of this group of biomarkers on patient survival. It was revealed that the overall survival one year after diagnosis for the entire series was 90.95%; it was higher in patients without high-risk cytogenetic and molecular alterations (BCR::ABL1, KMT2A::AFF4 genes, Hypodiploidy) and with an adequate morphological response to induction therapy on day 33. Five years after diagnosis, overall survival was 75.79%, lower in male patients, those with high-risk cytogenetic and molecular biomarkers, unfavorable morphological response in peripheral blood on day 8, in bone marrow on day 33, and those who experienced disease relapse.
This study represents a significant advance in the field of hematological research by evaluating biomarkers related to survival in Cuban pediatric patients with B-ALL. The evaluation of these factors for the first time in Cuba provides a solid foundation for developing precise and effective prognostic research and treatment strategies as part of the development strategies for personalized medicine in the country. The analysis of biomarkers contributes to a greater understanding of the necessary integration between the laboratory and clinical practice, aspirations fulfilled by bringing pediatric hematology closer to translational medicine in the Central America and Caribbean region.