Frequency of polymorphisms in the IKZF1 and CDKN2A/2B genes and descriptive analysis in pediatric patients with acute lymphoblastic leukemia: a multicenter hospital-based prevalence study in Rio De Janeiro

Acute lymphoblastic leukemia (ALL) is the most common childhood cancer, and B-cell ALL (B-ALL) is the most common subtype. The understanding of ALL has advanced significantly in recent years due to genomic sequencing, which has made it possible to identify genetic variants and detect the association between “single nucleotide polymorphisms” (SNP) and certain diseases.

We evaluated 126 patients diagnosed with B-ALL in hospitals in Rio de Janeiro. We described the frequency of polymorphisms in the IKZF1, CDKN2A/2B genes, the contribution of these genetic variants in pediatric ALL, and compared them with the general population of Rio de Janeiro.

We demonstrated that the SNPs rs3731217, rs4132601, and rs11978267 were more frequent in patients with B-ALL.

These findings contribute to a more complete understanding of B-ALL. They can guide future studies, bringing new perspectives on personalized therapies with reduced side effects and optimization efficacy of B-ALL treatment in children.