title: Status of the NF1 tumor suppressor locus in uveal melanoma.
abstract: BACKGROUND
  A clinical association has been observed between uveal melanoma and neurofibromatosis type 1 (NF1). This study aims to determine whether the NF1 tumor suppressor gene is mutated in uveal melanoma.
  
  
  METHODS
  Thirty-eight uveal melanomas, as well as normal uveal melanocytes, were examined for NF1 deletions by dual-color fluorescence in situ hybridization, and for expression of the NF1 protein (neurofibromin) by immunohistochemistry and Western blot analysis.
  
  
  RESULTS
  Normal uveal melanocytes strongly express neurofibromin. Eighteen (47%) of uveal melanomas demonstrated weak expression of neurofibromin. One large tumor contained a deletion of the NF1 locus and lacked neurofibromin expression. Two other tumors contained additional copies of the NF1 chromosomal region.
  
  
  CONCLUSIONS
  Mutations of the NF1 gene may occasionally play a role in the pathogenesis of uveal melanoma. Clinical Relevance A search for biallelic NF1 mutations in uveal melanomas from patients with neurofibromatosis will be of interest to determine whether germline NF1 mutations may predispose to uveal melanoma.
authors.affiliation: Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO 63110, USA.
authors.forename: William J
authors.initials: WJ
authors.lastname: Foster
authors.forename: Christine E
authors.initials: CE
authors.lastname: Fuller
authors.forename: Arie
authors.initials: A
authors.lastname: Perry
authors.forename: J William
authors.initials: JW
authors.lastname: Harbour
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015153:Blotting, Western; D005260:Female; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D007124:Immunoenzyme Techniques; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008544:Melanocytes / Q000378:metabolism; D008545:Melanoma / Q000235:genetics* / Q000378:metabolism; D008875:Middle Aged; D009154:Mutation; D025542:Neurofibromin 1 / Q000378:metabolism; D014604:Uveal Neoplasms / Q000235:genetics* / Q000378:metabolism
chemical_list: D025542:Neurofibromin 1