¹Postgraduate program in Maternal and Child Health at UFRJ, Rio de Janeiro, Brazil.
Genetics of Acute Leukemia Laboratory (GenLAb), Research Center, Instituto Nacional de Câncer (INCA), Rio de Janeiro, Brazil.
BMC Cancer. 2024 Oct 10;24(1):1255. doi: 10.1186/s12885-024-13005-y.
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.
急性淋巴细胞白血病（ALL）是最常见的儿童癌症，B 细胞 ALL（B-ALL）是最常见的亚型。近年来，由于基因组测序的发展，人们对 ALL 的认识有了显著提高，这使得人们能够识别遗传变异，并检测“单核苷酸多态性”（SNP）与某些疾病之间的关联。
我们评估了里约热内卢医院诊断为 B-ALL 的 126 名患者。我们描述了 IKZF1、CDKN2A/2B 基因中的多态性频率，这些遗传变异在儿科 ALL 中的作用，并将其与里约热内卢的一般人群进行了比较。
我们证明了 SNPs rs3731217、rs4132601 和 rs11978267 在 B-ALL 患者中更为常见。
这些发现有助于更全面地了解 B-ALL。它们可以指导未来的研究，为儿童 B-ALL 的治疗带来新的视角，减少副作用，并优化疗效。
