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.

Neurofibromatosis type 1 and associated malignancies

“…A distinctive osseous lesion, such as sphenoid wing dysplasia or thinning of long bone cortex with or without pseudoarthrosis A fi rst-degree relative with neurofi bromatosis type I according to the above criteria (From Hottinger and Khakoo [64], with permission.) proptosis, optic disc atrophy, and precocious puberty [ 26 , 28 ].…”

Burden of disease and unmet needs in tuberous sclerosis complex with neurological manifestations: systematic review

“…TSC most often results from spontaneous genetic mutations [3][4][5][6][7][8][9] in one or two genes, TSC1 and TSC2, which encode hamartin and tuberin, respectively. These gene products form a physical and functional complex that inhibits the mammalian target of rapamycin (mTOR) pathway [10][11][12] and results in disorganized cellular growth, abnormal differentiation, and, ultimately, tumor growth [13][14][15][16] .…”

Rathke's cleft cysts in twins with Type 2C von Hippel-Lindau disease

“…3 Other rare CNS lesions associated with VHLD include cerebellar ependymomas, astrocytomas, neuroblastomas, dermoid cysts, arteriovenous malformations, and primitive neuroectodermal tumors. 6 Suprasellar and intrasellar hemangioblastomas have been documented. [9][10][11] There is one case report of pituitary adenoma and paraganglioma in a patient with VHLD.…”