Background: Most cancers of the central nervous system (CNS) occur sporadically in the absence of any known underlying familial disorder or multi-systemic syndrome. Several syndromes are associated with CNS malignancies, however, and their recognition has significant implications for patient management and prognosis. Patients with syndrome-associated CNS malignancies often have multiple tumours (either confined to one region or distributed throughout the body), with similar or different histology.
Objective: This review examines syndromes that are strongly associated with CNS cancers: the phakomatosis syndromes, familial syndromes such as Li-Fraumeni and familial polyposis syndromes and dyschondroplasia.
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