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 journalArticlepeer-review

25 Scopus citations


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 (US)
Pages (from-to)1311-1315
Number of pages5
JournalArchives of Ophthalmology
Issue number9
StatePublished - Sep 1 2003

ASJC Scopus subject areas

  • Ophthalmology


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