TP53 codon 72 polymorphisms in favorable histology Wilms tumors

Pediatr Blood Cancer. 2012 Aug;59(2):326-8. doi: 10.1002/pbc.23315. Epub 2011 Aug 16.

Abstract

In Wilms tumor (WT), mutations in the gene encoding p53, TP53, are correlated with anaplasia; however TP53 variants have not been studied in favorable histology (FH) WTs. A single nucleotide polymorphism of TP53 encoding either arginine or proline at codon 72 is suggested to alter in vitro p53 behavior. Therefore, we analyzed tissue from 23 consecutive patients with FHWT to determine allelic and genotypic frequencies of Pro72 and Arg72 variants and correlate this with clinical outcomes. Interestingly, our cohort showed a statistically significant over-representation of the Arg allele and Arg/Arg genotype. However, the genotypic and allelic frequencies showed no significant correlation with age, stage, or disease recurrence.

MeSH terms

  • Alleles
  • Arginine / genetics*
  • Bone Neoplasms / genetics*
  • Bone Neoplasms / pathology
  • Child
  • Child, Preschool
  • Codon / genetics*
  • Female
  • Follow-Up Studies
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Infant
  • Male
  • Neoplasm Recurrence, Local / genetics
  • Neoplasm Recurrence, Local / pathology
  • Neoplasm Staging
  • Polymorphism, Single Nucleotide / genetics*
  • Proline / genetics*
  • Retrospective Studies
  • Risk Factors
  • Tumor Suppressor Protein p53 / genetics*
  • Wilms Tumor / genetics*
  • Wilms Tumor / pathology

Substances

  • Codon
  • TP53 protein, human
  • Tumor Suppressor Protein p53
  • Arginine
  • Proline