Update on the management of familial central nervous system tumor syndromes. Review uri icon

Overview

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.

publication date

  • May 1, 2007

Research

keywords

  • Central Nervous System Neoplasms
  • Neoplastic Syndromes, Hereditary

Identity

Scopus Document Identifier

  • 34249678301

Digital Object Identifier (DOI)

  • 10.1007/s11910-007-0031-5

PubMed ID

  • 17488585

Additional Document Info

volume

  • 7

issue

  • 3