Li-Fraumeni syndrome: Multiple distinct brain tumours in two brothers
| Autor: | P Hilbert, L. Van Maldergem, Jerome R. Lechien, Y. Nubourgh, Jacques Brotchi, G. Bruninx, P. Costa de Araujo |
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| Rok vydání: | 2014 |
| Předmět: |
Adult
Male Leiomyosarcoma Pathology medicine.medical_specialty Brain Neoplasms business.industry Siblings Cancer Genes p53 medicine.disease Tp53 mutation Germline Li-Fraumeni Syndrome Thyroid carcinoma Male patient Li–Fraumeni syndrome Mutation Mutation (genetic algorithm) Humans Medicine Surgery Neurology (clinical) business |
| Zdroj: | Neurochirurgie. 60:51-54 |
| ISSN: | 0028-3770 |
| DOI: | 10.1016/j.neuchi.2013.11.005 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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