De novo germline TP53 mutation presenting with synchronous malignancies of the central nervous system

Matthew J. Schniederjan, Bahig Shehata, Daniel J. Brat, Natia Esiashvili, Anna J. Janss

Research output: Contribution to journalArticlepeer-review

7 Scopus citations

Abstract

We present a case of a 14-year-old male with a germline TP53 mutation who presented with synchronous primitive neuroectodermal tumor and choroid plexus carcinoma. Identification of synchronous brain tumors prompted genetic testing for predisposition to malignancy. Within 5 months of presentation, the child developed widely metastatic alveolar rhabdomyosarcoma. Patient DNA sequencing showed a TP53 allele with a premature stop codon in the oligomerization/nuclear export signal (NES) domain (R342ter). The child's parents, younger brother, paternal grandparents, and maternal grandmother, are without history of malignancy. The patient's brother tested negative for TP53 mutations. This case identifies a rare, de novo, germline TP53 mutation presenting with synchronous CNS malignancies and exhibiting a more fulminant course than typical cases of Li-Fraumeni syndrome.

Original languageEnglish (US)
Pages (from-to)1352-1354
Number of pages3
JournalPediatric Blood and Cancer
Volume53
Issue number7
DOIs
StatePublished - Dec 15 2009

Keywords

  • Li-Fraumeni
  • p53
  • Synchronous tumors

ASJC Scopus subject areas

  • Oncology
  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Medicine(all)

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