Neurofibromatosis type 1 (NF1) and type 2 (NF2) are autosomal dominant tumor predisposition syndromes with prominent involvement of the central and peripheral nervous systems. Clinical features of NF1 typically include, but are not limited to, café-au-lait spots, neurofibromas, skinfold freckling, optic pathway gliomas, Lisch nodules and bony lesions, such as sphenoid bone dysplasia. Neurofibromatosis type 2 is characterized by the development of bilateral vestibular schwannomas, meningiomas, ependymomas, and lenticular opacities. Both syndromes result from mutations in tumor suppressor genes, whose loss of function leads to increased cell growth. Molecular biology and animal models have provided critical new insights into the mechanisms underlying NF1 and NF2 protein function. While past treatment approaches have been focused on traditional chemotherapy or surgical techniques, the improved understanding of the pathogenesis of these conditions afforded by basic science research has led to the implementation of novel targeted therapies.

Original languageEnglish
Title of host publicationRosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease
Subtitle of host publicationFifth Edition
PublisherElsevier Inc.
Number of pages13
ISBN (Electronic)9780124105294
ISBN (Print)9780124105492
StatePublished - Nov 13 2014


  • Astrocytoma
  • Brain tumor
  • Ependymoma
  • Glioma
  • Meningioma
  • Merlin
  • Neurofibromatosis type 1
  • Neurofibromatosis type 2
  • Schwannomin
  • Tumor predisposition syndrome


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