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Update on the management of familial central nervous system tumor syndromes

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Abstract

Hereditary central nervous tumor syndromes are a varied group of conditions that include neurofibromatosis type 1 and 2, tuberous sclerosis, Von Hippel-Lindau disease, and Cowden, Turcot, and Gorlin syndromes. The responsible genes have been identified in most of these disorders. These genes typically act as tumor suppressor genes, maintain normal cellular function and homeostasis, and regulate cell growth and differentiation. Familial central nervous system tumors are mostly inherited as autosomal dominant traits and involve germline mutations. Neoplastic development occurs when a somatic mutation inactivates the second allele. These patients also present unique challenges for their management. This review highlights the clinical manifestations, molecular genetics, pathophysiology, and current treatment options of these disorders with a focus on neuro-oncologic manifestations of the diseases.

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  1. Departments of Neurology and Pediatrics, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY, 10021, USA

    Yasmin Khakoo MD

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  1. Andreas F. Hottinger MD, PhD
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  2. Yasmin Khakoo MD
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Correspondence to Yasmin Khakoo MD.

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Hottinger, A.F., Khakoo, Y. Update on the management of familial central nervous system tumor syndromes. Curr Neurol Neurosci Rep 7, 200–207 (2007). https://doi.org/10.1007/s11910-007-0031-5

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