title: Genetics of neurofibromatosis 1-associated peripheral nerve sheath tumors.
abstract: Neurofibromatosis 1, an inherited disorder that affects 1/3500 individuals worldwide, predisposes to the development of benign and malignant peripheral nerve sheath tumors. The disorder results from inactivation of one of the NFI genes. The second NFI gene is typically inactivated in Schwann cells during tumor formation. This article reviews the different types of genetic alterations in NFI in both constitutional and tumor tissues and genetic alterations of other genes that may affect tumorigenesis. These studies have provided insight into the genetic basis of both the variable expression of the disorder and of benign and malignant peripheral nerve sheath tumorigenesis.
authors.affiliation: Departments of Medicine and Laboratory Medicine, University of Washington, 1959 NE Pacific St., Rm I-204, Box 357720, Seattle, WA 98195-7720, USA. millie@u.washington.edu
authors.forename: Karen
authors.initials: K
authors.lastname: Stephens
mesh_terms: D000818:Animals; D002471:Cell Transformation, Neoplastic; D004195:Disease Models, Animal; D015972:Gene Expression Regulation, Neoplastic; D016514:Genes, Neurofibromatosis 1; D018095:Germ-Line Mutation; D006720:Homozygote; D006801:Humans; D051379:Mice; D018317:Nerve Sheath Neoplasms / Q000209:etiology* / Q000235:genetics*; D009456:Neurofibromatosis 1 / Q000150:complications*