Investigation of Potential Genetic and Environmental Risk Factors in Familial Uveal Melanoma
We are examining the possible genetic and environmental risk factors for uveal melanoma using tissue and blood samples from a patient with familial uveal melanoma and blood samples from siblings.
Investigators
Principal Investigator: Jennifer Smith, MD
Co-Investigators: Wendy S. Rubinstein, MD, PhD, Lissa Silver, PhD
Capsule
Uveal melanoma is a rare cancer of the tissues of the eye. Although relatively uncommon, it is an aggressive cancer and usually results in surgical removal of the eye. In many cases, it often spreads to the liver. This type of cancer occurs in families statistically more often than by chance. Thus efforts have been made to find an underlying genetic alteration that predisposes family members to uveal melanoma.
It is difficult to study uveal melanoma because of its rarity. Only 81 families have been reported in the literature since 1892. Therefore, when familial uveal melanoma occurs, it is important to examine possible genetic and environmental risk factors in the patient, as well as in as many family members as possible. In the family we studied, the presenting patient was one of 10 children whose mother also had the disease. The family also has a history of benign brain tumors and cutaneous melanoma, suggested to be related to uveal melanoma because of the similarities in tumor histology.
Study Participant Recruitment & Eligibility
Recruitment closed
Outcomes
No germline mutations were detected in the tumor suppressor genes p16INK4a and p14ARF, both of which have been found in familial melanoma. Our results strengthen the association between uveal melanoma, atypical nevi, and cutaneous melanoma. This relationship supports the recommendation that individuals with a personal or family history of uveal melanoma, particularly in combination with atypical nevi should be regularly screened for uveal and cutaneous melanoma.
Publication
Smith JH, Padnick-Silver L, Newlin A, Rhodes, K, Rubinstein WS. Genetic Study of Familial Uveal Melanoma: Association of Uveal and Cutaneous Melanoma with Cutaneous and Ocular Nevi. In press, Ophthalmology 2006.