FAMILIAL UVEAL MELANOMA - CLINICAL OBSERVATIONS ON 56 PATIENTS

Objective: To study the clinical profile and kindreds of patients with familial uveal melanoma (FUM). Design: Retrospective case series. Set ting: Tertiary referral center. Patients: Medical charts of 4500 patie nts with uveal melanoma were reviewed for family history of uveal mela noma. She clinical profile of these patients and their kindreds were s tudied to determine the incidence of FUM and pattern of inheritance. T he association of FUM to cutaneous melanoma, familial atypical mole an d melanoma syndrome, and other nonmelanocytic cancers was analyzed usi ng statistical methods. Results: Of 4500 patients with uveal melanoma, 56 patients in 27 families (0.6%) had a family history of uveal melan oma. The uveal melanoma in all 56 familial patients was unilateral. In 17 cases (63%), the second affected relative was a first-degree relat ive. In the remainder, the second affected relative was a second- (22% ) and third-degree (15%) relative. In 25 families (93%) only two membe rs were affected, and in two families (7%) three members had uveal mel anoma. Patients with FUM were four times as likely to have a second pr imary malignant neoplasm than were people in the general population. H owever, 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. Familia l uveal melanoma most often (63%) affects first-degree relatives, rare ly affects more than two persons in a family, and may be associated wi th a generalized inherited predisposition to cancer. Further genetic s tudies are necessary to fully characterize FUM syndrome.