Association of MMP-2 and MMP-9 Polymorphisms and the Pathogenesis of Childhood Burkitt's Lymphoma

Burkitt lymphoma (BL) is a highly aggressive and invasive non-Hodgkin lymphoma derived from germinal center B cells and represents one of the most common childhood malignancies. Matrix metalloproteinases (MMPs) play a critical role in cancer progression by remodeling the extracellular matrix and modulating the tumor microenvironment. In advanced stages, MMPs facilitate tumor invasion and metastasis through the degradation of extracellular matrix components. This study aimed to investigate the association between MMP-2 and MMP-9 gene polymorphisms and the pathogenesis of childhood BL.

This study was conducted at the Pediatric Oncohematology Center of the University of Pernambuco between 2021 and 2023 and included patients of both sexes aged 1 to 18 years diagnosed with BL between 1993 and 2023. Genomic DNA was extracted from peripheral blood samples using the salting-out method. Polymorphisms were identified by real-time polymerase chain reaction (PCR) using the TaqMan system.

A total of 56 patients diagnosed with BL were analyzed; most were male, with a mean age of 7.1 years. The overall survival rate was 92.6%. A protective effect of the mutant TT genotype was observed compared to the wild-type CC genotype (OR = 0.0562; 95% CI: 0.0068-0.4644; p = 0.0016) for the MMP-2 polymorphism. Furthermore, individuals carrying the mutant G allele showed a positive association with BL compared to the wild-type A allele (G vs. A: OR = 1.9920; 95% CI: 1.1812-3.3594; p = 0.0130).

These findings contribute to a better understanding of the genetic factors influencing BL susceptibility and support the need for further functional and large-scale studies to elucidate the mechanistic role of MMP-2 and MMP-9 polymorphisms in BL pathogenesis.