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Familial tumour syndromes: neurofibromatosis, schwannomatosis, rhabdoid tumour predisposition, Li–Fraumeni syndrome, Turcot syndrome, Gorlin syndrome, and Cowden syndrome 

Familial tumour syndromes: neurofibromatosis, schwannomatosis, rhabdoid tumour predisposition, Li–Fraumeni syndrome, Turcot syndrome, Gorlin syndrome, and Cowden syndrome
Chapter:
Familial tumour syndromes: neurofibromatosis, schwannomatosis, rhabdoid tumour predisposition, Li–Fraumeni syndrome, Turcot syndrome, Gorlin syndrome, and Cowden syndrome
Author(s):

Scott R. Plotkin

, Jaclyn A. Biegel

, David Malkin

, Robert Martuza

, and D. Gareth Evans

DOI:
10.1093/med/9780199651870.003.0015
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date: 27 February 2021

‘Familial tumour syndromes’ reviews some of the genetic syndromes associated with an increased incidence of nervous system tumours, including neurofibromatosis 1, neurofibromatosis 2, schwannomatosis, rhabdoid tumour predisposition, Li–Fraumeni syndrome, Turcot syndrome, Gorlin syndrome, and Cowden syndrome. The chapter reviews the epidemiology of these rare conditions with discussion of current diagnostic criteria. It reviews the genetic basis and pathogenesis of the conditions as well as the availability of genetic testing. It covers the clinical aspects of these conditions, including clinical presentation, associated nervous system tumours, and recommended management of these syndromes with a discussion of the role of imaging. The review is written for the practising neuro-oncologist and other specialists who care for patients with genetic syndromes affecting the nervous system.

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