Abstract
The familial cancer syndromes are disorders in which inheritance of genetic mutations results in a predisposition to develop tumours, both benign and malignant, in more than one organ system and often at an earlier age of onset. In this chapter we outline those syndromes in which involvement of the central nervous system is a key component. Advances in the field of genomics have enhanced our understanding of the underlying causative mutations that give rise to these conditions. In some cases, systemic therapies capable of treating more than one clinical feature within the disease phenotype have been developed. It is hoped that in years to come, more such therapies will become available and reduce the disease burden associated with these conditions. Although the genetics and clinical phenotype of these syndromes differ, their management shares common features such as the need for genetic counselling, lifelong screening and early treatment of arising cancers. Treatment protocols for these patients have rather unique considerations such as that of prophylactic surgery in order to reduce cancer incidence and the avoidance of radiotherapy to prevent a further increase in cancer risk. Due to their rarity, affected patients are best managed in specialist centres within multi-disciplinary teams.
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Ferry, I., Alli, S., Rutka, J.T. (2018). Familial Syndromes. In: Di Rocco, C., Pang, D., Rutka, J. (eds) Textbook of Pediatric Neurosurgery. Springer, Cham. https://doi.org/10.1007/978-3-319-31512-6_81-1
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