Neurofibromatosis and schwannomatosis

Abstract

Neurofibromatosis type 1 (NF1), NF2, and schwannomatosis constitute a group of related tumor suppressor syndromes unified by the predisposition to nerve sheath tumors. These patients harbor germline inactivating mutations in tumor suppressor genes (first-hit) and develop tumors when tissues acquire a second somatic mutation in the remaining allele (second-hit). Despite the overlap between these disorders, there are many differences in the phenotype and management of these patients. This chapter reviews the clinical and genetic aspects of these related disorders. © 2010 Springer Science+Business Media, LLC.