Preliminary Evaluation of the Genetic Profile of Pediatric Patients with Acute Lymphoblastic Leukemia (ALL) in the Colombian Population
Keywords:
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma, Cytogenomics, Child HealthAbstract
Acute Lymphoblastic Leukemia (ALL) is one of the most common malignant neoplasms originating from lymphoid precursors. In Colombia, the situation of leukemia poses a challenge, as the survival rate is close to 56%, a figure still far from that described in developed countries. In this project, we aim to genetically characterize pediatric Colombian patients with ALL, enabling a more precise risk stratification based on clinical and genetic characteristics.
Genetic analysis will be performed on 40 newly diagnosed Colombian patients with ALL through whole exome sequencing to analyze somatic and germline variants. In the course of the project, 12 patients from the San Vicente Foundation University Hospital have been recruited. Among them, 58.3% are male, aged between 1 - 12 years, with an average age of 6 years. 75% belong to a lower socioeconomic stratum, and 50% of the patients have a family history of cancer with relatives up to the second degree of consanguinity. 25% exhibit hyperdiploid karyotypes, and 16.6% have hypodiploid karyotypes. 83.3% have a diagnosis of B-lineage ALL, 25% have central nervous system involvement, and 58% are classified as intermediate risk, with 8.3% at high risk.
This research aims to advance the accurate classification of Colombian ALL patients, allowing for a more precise diagnosis, prognosis, and selection of the most appropriate treatment.
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References
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