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2013-02-04 - Article/Dans un journal avec peer-review - Anglais - 10 page(s) (A publier)

Lechien Jérome , Brotchi Jacques, Van Maldergem Lionel, Costa Pedro, Bruninx Guy, nubourgh yves, "Li-Fraumeni syndrome: multiple distinct brain tumours in brothers " in Neuro-Chirurgie

  • Edition : Masson, Paris (France)
  • Codes CREF : Neuropathologie (DI332C)
  • Unités de recherche UMONS : Anatomie et Biologie cellulaire (M112)
  • Instituts UMONS : Institut des Sciences et Technologies de la Santé (Santé)

Abstract(s) :

(Anglais) Li-Fraumeni Syndrome is a rare autosomal dominant cancer-prone condition characterized by the occurrence of a large set of different types of cancer in a patient and his or her family. A germline disease-causing mutation of the gene encoding the p53 protein is associated with the syndrome. We shall report on a family in which segregation of a TP53 mutation in two generations was associated with two brain tumours, a leiomyosarcoma and a thyroid carcinoma in four male subjects. The index patient presented with seizures revealing several primary brain tumours. We review recent views on its molecular basis and discuss handling of the condition review of the literature on the subject.

Mots-clés :
  • (Anglais) p53
  • (Anglais) Li-Fraumeni syndrome
  • (Anglais) tumour
  • (Anglais) brain
  • (Anglais) genetic