Germline p53 mutation presenting as synchronous tumors

J Pediatr Hematol Oncol. 2005 Aug;27(8):441-3. doi: 10.1097/01.mph.0000176732.68090.c8.

Abstract

Li-Fraumeni syndrome and the LF-like syndrome, rare heritable conditions that predispose to the development of malignancy, are associated with germline mutations of the tumor suppressor gene p53. The authors describe a 14-month-old boy who presented with synchronous rhabdomyosarcoma and adrenal cortical carcinoma and a novel mutation of the p53 gene. Analysis of exons 2 through 11 of the p53 gene using the polymerase chain reaction and DNA sequencing revealed a mutation of codon 273. Although codon 273 is a known hotspot region for p53 mutation, the patient's mutation, R273H, has not been associated with development of adrenal cortical carcinoma.

Publication types

  • Case Reports

MeSH terms

  • Adrenal Cortex Neoplasms / genetics*
  • Adrenal Cortex Neoplasms / pathology
  • Carcinoma / genetics*
  • Carcinoma / pathology
  • Codon
  • Genes, p53*
  • Germ-Line Mutation*
  • Humans
  • Infant
  • Li-Fraumeni Syndrome / complications*
  • Li-Fraumeni Syndrome / genetics
  • Male
  • Neoplasms, Multiple Primary / genetics*
  • Neoplasms, Multiple Primary / pathology
  • Rhabdomyosarcoma / genetics*
  • Rhabdomyosarcoma / pathology
  • Risk Factors

Substances

  • Codon