G2Cdb::Human Disease report

Disease id
D00000065
Name
Uveal melanoma
Nervous system disease
no

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00000036 NF1
neurofibromin 1
Y (12963615) Deletion (D) Y

References

  • Status of the NF1 tumor suppressor locus in uveal melanoma.

    Foster WJ, Fuller CE, Perry A and Harbour JW

    Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO 63110, USA.

    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.

    Funded by: NEI NIH HHS: K08 EY00382-01, R01 EY13168-01

    Archives of ophthalmology (Chicago, Ill. : 1960) 2003;121;9;1311-5

Literature (1)

Pubmed - other

  • Status of the NF1 tumor suppressor locus in uveal melanoma.

    Foster WJ, Fuller CE, Perry A and Harbour JW

    Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO 63110, USA.

    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.

    Funded by: NEI NIH HHS: K08 EY00382-01, R01 EY13168-01

    Archives of ophthalmology (Chicago, Ill. : 1960) 2003;121;9;1311-5

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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