Simultaneous adrenocortical carcinoma and ganglioneuroblastoma in a child with Turner syndrome and germline p53 mutation

E. K. Pivnick, W. L. Furman, G. V.N. Velagaleti, J. J. Jenkins, N. A. Chase, R. C. Ribeiro

Research output: Contribution to journalArticlepeer-review

32 Scopus citations

Abstract

The predisposition to malignancy that is dominantly inherited in Li-Fraumeni syndrome is associated with germline mutations of the tumour suppressor gene p53. Although second malignant neoplasms have been described in children with p53 mutations, the synchronous occurrence of two embryologically different tumours in these children has not been reported. A 20 month old girl with failure to thrive and congenital heart defects was found to have unilateral adrenal masses which, at surgical removal, proved to be an adrenocortical carcinoma and a ganglioneuroblastoma. Further investigation showed a germline p53 mutation and Turner syndrome. It remains to be determined what effect the 45,X chromosomal complement may have on the expression of neoplasms seen in patients with p53 germline mutations.

Original languageEnglish (US)
Pages (from-to)328-332
Number of pages5
JournalJournal of medical genetics
Volume35
Issue number4
DOIs
StatePublished - 1998

Keywords

  • Adrenocortical carcinoma
  • Ganglioneuroblastoma
  • Turner syndrome
  • p53 mutation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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