Familial uveal melanoma. Clinical observations on 56 patients.

Archives of ophthalmology

PubMedID: 8602775

Singh AD, Shields CL, De Potter P, Shields JA, Trock B, Cater J, Pastore D. Familial uveal melanoma. Clinical observations on 56 patients. Arch Ophthalmol. 1996;114(4):392-9.
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 seem 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.