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Central Nervous System

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A Practical Guide to Human Cancer Genetics

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Abstract

Primary central nervous system (CNS) neoplasms affect about 1 per 10,000 of the population. Although the incidence of brain tumors increases with advancing age, intracranial neoplasms are the most common cause of solid cancer in children. The distribution and histological type of brain tumor differ in children and in adults. In children, brain tumors most often arise in the posterior fossa, and the most frequent tumor types are medulloblastoma, spongioblastoma (including cerebellar astrocytoma and optic nerve glioma), and ependymomas. In adults, most tumors are supratentorial, and meningiomas and gliomas are the most frequent types. Familial brain tumors may occur as part of a rare specific inherited cancer syndrome (Table 1.1). Epidemiological studies have suggested that there is a small increased risk of cerebral neoplasms among relatives of brain tumor patients compared to controls: Choi et al. (1970) and Gold et al. (1994) found a ninefold increase in the incidence of brain tumor among relatives of patients with glioma compared to controls, whereas Burch et al. (1987) found a (statistically insignificant) sixfold increase among relatives of brain tumor patients. Nevertheless, the absolute risk to relatives is small, 0.6 % in the study by Choi et al. (1970). Miller (1971) found a ninefold increase in the expected number of sib pairs among children with brain tumors and a similar excess of families in which one child died of brain tumor and another of cancer of bone or muscle. Soft tissue sarcomas and brain tumors occur as part of the Li–Fraumeni syndrome. Mahaley et al. (1989) found a family history of cancer in 16–19 % of patients with brain tumors (similar to the expected incidence) but that the incidence was 30–33 % in patients with glioblastoma multiforme, malignant lymphoma, and neuroblastoma. A family history of neurofibromatosis was obtained in 1.6 % of cases. In a recent large joint Nordic study, 2.6 % of patients with nervous system cancer were familial. The SIR of brain tumors was 1.7 in offspring of affected parents, 2.0 in siblings, and 9.4 in families with a parent and sibling affected (Hemminki et al. 2010). As high-penetrance multiplex families with CNS tumors accounted for only a minority of cases, it has been suggested that most familial risks might be attributable to lower-penetrance genes (Hemminki et al. 2009). The familial risks for nervous system tumors do vary according to tumor histopathology (Hemminki et al. 2009), and the genetic implications of specific CNS tumors are described below.

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Authors and Affiliations

  1. Cancer Genetics, St Georges Hospital, London, UK

    Shirley V. Hodgson

  2. Program in Cancer Genetics Department of Human Genetics, Medicine and Oncology, McGill University, Montreal, Québec, Canada

    William D. Foulkes

  3. Genomic Medicine Institute Cleveland Clinic, Cleveland, OH, USA

    Charis Eng

  4. Department of Medical Genetics, University of Cambridge, Cambridge, UK

    Eamonn R. Maher

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Hodgson, S.V., Foulkes, W.D., Eng, C., Maher, E.R. (2014). Central Nervous System. In: A Practical Guide to Human Cancer Genetics. Springer, London. https://doi.org/10.1007/978-1-4471-2375-0_1

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  • DOI: https://doi.org/10.1007/978-1-4471-2375-0_1

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