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.

ABSTRACT:

Background

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.

Methods

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.

Results

We demonstrated that the SNPs rs3731217, rs4132601, and rs11978267 were more frequent in patients wi

SUBMITTER: da Rocha Figueiredo A 

PROVIDER: S-EPMC11465668 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature