Prognostic value of the TP53 Arg72Pro single-nucleotide polymorphism and susceptibility to medulloblastoma in a cohort of Brazilian patients

Medulloblastoma is a highly cellular malignant embryonal neoplasm, being the most common malignant pediatric brain tumor, accounting for 20–25 % of pediatric central nervous system tumors. To investigate the effect of the TP53 Arg72Pro single-nucleotide polymorphism (SNP) on clinicopathological and...

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Bibliographic Details
Published in:Journal of neuro-oncology 2012-10, Vol.110 (1), p.49-57
Main Authors: Carvalho, Raimundo M., Pinto, Giovanny R., Yoshioka, France K. N., Lima, Patrícia D. L., Souza, Carolina R. T., Guimarães, Adriana C., Lamarão, Letícia M., Rey, Juan A., Burbano, Rommel R.
Format: Article
Language:English
Subjects:
Adjuvants
Brain tumors
Brazil
Case-Control Studies
Central nervous system
Cerebellar Neoplasms - genetics
Cerebellar Neoplasms - mortality
Cerebellar Neoplasms - therapy
Chemoradiotherapy, Adjuvant
Child
Data processing
Disease-Free Survival
Female
Genes, p53 - genetics
Genetic Predisposition to Disease - genetics
Genotype
Humans
Immunohistochemistry
Kaplan-Meier Estimate
Laboratory Investigation
Male
Medicine
Medicine & Public Health
Medulloblastoma
Medulloblastoma - genetics
Medulloblastoma - mortality
Medulloblastoma - therapy
Neurology
Oncology
p53 protein
Pediatrics
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
Population studies
Prognosis
Single-nucleotide polymorphism
Survival
Tumor Suppressor Protein p53 - analysis
Tumor Suppressor Protein p53 - biosynthesis
Tumor Suppressor Protein p53 - genetics
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Summary:Medulloblastoma is a highly cellular malignant embryonal neoplasm, being the most common malignant pediatric brain tumor, accounting for 20–25 % of pediatric central nervous system tumors. To investigate the effect of the TP53 Arg72Pro single-nucleotide polymorphism (SNP) on clinicopathological and phenotypic parameters, we performed a case-controlled study of 122 patients and 122 healthy controls from Brazil. No significant associations were found between the TP53 Arg72Pro genotypes and the clinicopathological parameters studied. Compared with 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 [odds ratio (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, 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 shorter overall survival of medulloblastoma patients ( P  = 0.021). These data suggest that, although there is no association between the TP53 Arg72Pro SNP and medulloblastoma risk, the Pro/Pro genotype is associated with 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 on the function of the TP53 Arg72Pro SNP.
ISSN:0167-594X
1573-7373
DOI:10.1007/s11060-012-0950-0