Abstract
Pilocytic astrocytoma and ganglioglioma may occur in inaccessible or surgically difficult areas. In case of incomplete resection, the availability of biological predictors of tumour progression could be particularly important. To this end, an analysis of p53 codon 72 polymorphism and assessment of its role as prognostic marker were performed.The status of the p53 Arg72Pro polymorphism was evaluated by pyrosequencing method in a multicenter cohort of 170 paediatric patients. Genotype/phenotype associations were investigated either by means of bivariate or multivariate analyses.In the partially resected pilocytic astrocytomas, the Arg/Arg variant predicts early tumour progression (median survival time: 23.1 months) and is associated with poor event-free survival (p value = 0.0009). This finding remains true also in case of adjuvant therapies, with a 5-year event-free survival of 30.6% for cases with Arg/Arg variant vs. 78.7% for those with other genotypes. There is no association between ganglioglioma and the polymorphism.The assessment of Arg/Arg variant could improve the management of pilocytic astrocytoma. TP53 codon 72 analysis could distinguish low-risk cases, in which surgery could be conservative, from high-risk cases needing an aggressive surgery plan.
Highlights
Genetic studies suggest that some functional single-nucleotide polymorphisms (SNPs) involved in cell death control and DNA-repair mechanisms influence the prognosis of sporadic tumours
pilocytic astrocytomas (PAs) and mixed neuronal and glial tumours occurring in surgically non amenable sites pose several challenges to paediatric oncologists
We focused on the p53 Arg72Pro status in a multicenter cohort of PAs, GGs, and desmoplastic infantile gangliogliomas (DIGs), testing its role both as a risk factor and biological marker of early progression
Summary
Genetic studies suggest that some functional single-nucleotide polymorphisms (SNPs) involved in cell death control and DNA-repair mechanisms influence the prognosis of sporadic tumours. Despite TP53 inactivation in several tumours, [23,24,25] somatic mutations are rare in paediatric LGGs [26,27,28] It is noteworthy, that few studies addressed the role of Arg72Pro SNP in glial tumours: most of them included high grade tumours or adult cases and yield inconsistent results [6, 15, 29,30]. We focused on the p53 Arg72Pro status in a multicenter cohort of paediatric PAs and WHO grade I mixed neuronal and glial tumours, testing its role both as risk factor and marker of early progression
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