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April 1996

Familial Uveal Melanoma: Clinical Observations on 56 Patients

Author Affiliations

From the Oncology Service, Wills Eye Hospital, Philadelphia, Pa (Drs Singh, C. L. Shields, De Potter, J. A. Shields, and Pastore); the Division of Biostatistics, Vincent T. Lombardi Cancer Research Center, Georgetown University, Washington, DC (Dr Trock); and the Department of Academic Computing, Thomas Jefferson University, Philadelphia (Dr Cater). Dr Singh is now affiliated with the Department of Ophthalmology, University of Florida, Gainesville.

Arch Ophthalmol. 1996;114(4):392-399. doi:10.1001/archopht.1996.01100130388005

Objective:  To study the clinical profile and kindreds of patients with familial uveal melanoma (FUM).

Design:  Retrospective case series.

Setting:  Tertiary referral center.

Patients:  Medical charts of 4500 patients with uveal melanoma were reviewed for family history of uveal melanoma. The clinical profile of these patients and their kindreds were studied to determine the incidence of FUM and pattern of inheritance. The association of FUM to cutaneous melanoma, familial atypical mole and melanoma syndrome, and other nonmelanocytic cancers was analyzed using statistical methods.

Results:  Of 4500 patients with uveal melanoma, 56 patients in 27 families (0.6%) had a family history of uveal melanoma. The uveal melanoma in all 56 familial patients was unilateral. In 17 cases (63%), the second affected relative was a first-degree relative. In the remainder, the second affected relative was a second- (22%) and third-degree (15%) relative. In 25 families (93%) only two members were affected, and in two families (7%) three members had uveal melanoma. Patients with FUM were four times as likely to have a second primary malignant neoplasm than were people in the general population. However, no evidence was seen that unaffected kindreds of patients with FUM were at higher risk of having a second primary malignant neoplasm.

Conclusions:  Familial involvement in uveal melanoma is rare. Familial uveal melanoma most often (63%) affects first-degree relatives, rarely affects more than two persons in a family, and may be associated with a generalized inherited predisposition to cancer. Further genetic studies are necessary to fully characterize FUM syndrome.

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