Frequência de polimorfismos nos genes IKZF1 e CDKN2A/2B e análise descritiva em participantes pediátricos com leucemia linfoblástica aguda: um estudo multicêntrico de prevalência de base hospitalar na cidade do Rio de Janeiro

Abstract

Background. Acute lymphoblastic leukaemia (ALL) is the most common childhood cancer and B precursor cell Acute lymphoblastic leukaemia (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 sociodemographic and laboratory data from medical records of 119 patients diagnosed with B-ALL in hospitals in Rio de Janeiro and genotyped the SNPs from the diagnostic samples to describe the frequency of polymorphisms in the IKZF1, CDKN2A and CDKN2B genes. We also constructed a healthy population based on African, Amerindian and European populations for comparison with the leukemic population. Results. We demonstrate that SNPs rs3731217, rs4132601 and rs11978267 are in Hardy-Weinberg equilibrium (HWE) and at a higher frequency in the B-ALL population than in the hypothetical healthy population of Rio de Janeiro (RJ), so they are a risk factor for the development from BALL. In comparison with the Amerindian, African and European populations, it is also possible to note that there is a lower frequency of the variant genotype in these populations when compared to the ALL-B population. Conclusions. These findings contribute to a more complete understanding of B-ALL.