title: Li-Fraumeni syndrome: multiple distinct brain tumours in two brothers.
abstract: 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 their family. A germline disease-causing mutation of the gene encoding the p53 protein is associated with the syndrome. We 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 patients. The main patient presented with seizures revealing several primary brain tumours. We review recent views on its molecular basis and discuss management of the condition as well as a review of the literature.
authors.affiliation: Department of Anatomy, Faculty of Medicine, University of Mons, avenue du Champ-de-Mars, 6, 7000 Mons, Belgium. Electronic address: Jerome.lechien@ulb.ac.be.
authors.forename: J R
authors.initials: JR
authors.lastname: Lechien
authors.affiliation: Department of Neurosurgery, Erasme Hospital, Université Libre de Bruxelles, Bruxelles, Belgium.
authors.forename: J
authors.initials: J
authors.lastname: Brotchi
authors.affiliation: Institute of Pathology and Genetics, Loverval, Belgium.
authors.forename: L
authors.initials: L
authors.lastname: Van Maldergem
authors.affiliation: Department of Anatomy, Faculty of Medicine, University of Mons, avenue du Champ-de-Mars, 6, 7000 Mons, Belgium.
authors.forename: P
authors.initials: P
authors.lastname: Costa de Araujo
authors.affiliation: Department of Radiology, CHU Charleroi, Université Libre de Bruxelles, Bruxelles, Belgium.
authors.forename: G
authors.initials: G
authors.lastname: Bruninx
authors.affiliation: Institute of Pathology and Genetics, avenue Georges-Lemaître, 25, 6041 Gosselies, Belgium.
authors.forename: P
authors.initials: P
authors.lastname: Hilbert
authors.affiliation: Department of Neurosurgery, CHU Charleroi, Université Libre de Bruxelles, Bruxelles, Belgium.
authors.forename: Y
authors.initials: Y
authors.lastname: Nubourgh
mesh_terms: D000328:Adult; D001932:Brain Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D016158:Genes, p53 / Q000235:genetics*; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D008297:Male; D009154:Mutation / Q000235:genetics*; D035781:Siblings
keywords: Brain; Cerveaux; Genetic; Génétique; Li-Fraumeni syndrome; Tumeur; Tumour; p53