Germline p53 mutation presenting as synchronous tumors

Mary Ellen Cavalier, Mary M. Davis, James M. Croop

Research output: Contribution to journalArticlepeer-review

11 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)441-443
Number of pages3
JournalJournal of Pediatric Hematology/Oncology
Issue number8
StatePublished - Aug 1 2005


  • Adrenal cortical carcinoma
  • Li-Fraumeni syndrome
  • Rhabdomyosarcoma

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology


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