title: Update on the management of familial central nervous system tumor syndromes.
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.
authors.affiliation: Department of Neurology, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY 10021, USA.
authors.forename: Andreas F
authors.initials: AF
authors.lastname: Hottinger
authors.forename: Yasmin
authors.initials: Y
authors.lastname: Khakoo
mesh_terms: D001478:Basal Cell Nevus Syndrome / Q000235:genetics / Q000473:pathology / Q000503:physiopathology / Q000628:therapy; D016543:Central Nervous System Neoplasms / Q000235:genetics / Q000473:pathology / Q000503:physiopathology / Q000628:therapy; D003937:Diagnosis, Differential; D006223:Hamartoma Syndrome, Multiple / Q000235:genetics / Q000473:pathology / Q000503:physiopathology / Q000628:therapy; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000235:genetics / Q000473:pathology / Q000503:physiopathology / Q000628:therapy; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics / Q000473:pathology / Q000503:physiopathology / Q000628:therapy; D009456:Neurofibromatosis 1 / Q000235:genetics / Q000473:pathology / Q000503:physiopathology / Q000628:therapy; D016518:Neurofibromatosis 2 / Q000235:genetics / Q000473:pathology / Q000503:physiopathology / Q000628:therapy; D014402:Tuberous Sclerosis / Q000235:genetics / Q000473:pathology / Q000503:physiopathology / Q000628:therapy; D006623:von Hippel-Lindau Disease / Q000235:genetics / Q000473:pathology / Q000503:physiopathology / Q000628:therapy