Status of the NF1 tumor suppressor locus in uveal melanoma

William J. Foster, Christine E. Fuller, Arie Perry, J. William Harbour

Research output: Contribution to journalArticle

19 Citations (Scopus)

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. Conclusion: 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.

Original languageEnglish
Pages (from-to)1311-1315
Number of pages5
JournalArchives of Ophthalmology
Volume121
Issue number9
DOIs
StatePublished - Sep 1 2003
Externally publishedYes

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Neurofibromatosis 1
Neurofibromin 1
Neoplasms
Melanocytes
Mutation
Neurofibromatosis 1 Genes
Neurofibromatoses
Uveal melanoma
Tumor Suppressor Genes
Fluorescence In Situ Hybridization
Color
Western Blotting
Immunohistochemistry

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Status of the NF1 tumor suppressor locus in uveal melanoma. / Foster, William J.; Fuller, Christine E.; Perry, Arie; William Harbour, J.

In: Archives of Ophthalmology, Vol. 121, No. 9, 01.09.2003, p. 1311-1315.

Research output: Contribution to journalArticle

Foster, William J. ; Fuller, Christine E. ; Perry, Arie ; William Harbour, J. / Status of the NF1 tumor suppressor locus in uveal melanoma. In: Archives of Ophthalmology. 2003 ; Vol. 121, No. 9. pp. 1311-1315.
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