Valor prognóstico do SNP TP53 ARG72PRO na susceptibilidade ao desenvolvimento e na sobrevida de pacientes brasileiros com meduloblastoma

Abstract

Medulloblastoma is a highly cellular malignant embryonal neoplasm, and it is the most common malignant pediatric brain tumor, comprising 20 to 25% of pediatric central nervous systen tumors. To investigate the role of the TP53 Arg72Pro single nucleotide polymorphism (SNP) on medulloblastoma risk, medulloblastoma prognosis, and adjuvant therapy response, we performed a case-control study with 122 patientes and 122 healthy controls from Brazil. Compared to Arg/Arg, which is the most common genotype in the study population, both the Arg/Pro and Pro/Pro genotypes did not influence the medulloblastoma development risk (OR= 1.36 and P= 0.339 for the Arg/Pro genotype; OR=1.50 and P=0.389 for the Pro/Pro genotype). With regard to prognosis, the disease-free survival was not significantly different among the TP53 Arg72Pro SNP genotypes (P > 0.05), but the less frequent genotype, Pro/Pro, was associated with a shorter overall survival of medulloblastoma patients (P= 0.021). These data suggested that although there is no association between the TP53 Arg72Pro and medulloblastoma risk, the Pro/Pro genotype is associated with a shorter overall survival of patients submitted to adjuvant therapy. Nevertheless, due to the interethnic composition of the Brazilian population, future studies on larger populations from other parts of the world are essential for a definitive conclusion of the function of the TP53 Arg72Pro SNP