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Status of the NF1 Tumor Suppressor Locus in Uveal Melanoma
William J. Foster, MD;
Christine E. Fuller, MD;
Arie Perry, MD;
J. William Harbour, MD
Arch Ophthalmol. 2003;121:1311-1315.
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.
From the Departments of Ophthalmology and Visual Sciences (Drs Foster and Harbour) and Pathology (Drs Fuller and Perry), Washington University School of Medicine, St Louis, Mo. The authors have no relevant financial interest in this article.
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