Familial uveal melanoma. Clinical observations on 56 patients
A. D. Singh, C. L. Shields, P. De Potter, J. A. Shields, B. Trock, J. Cater and D. Pastore
Wills Eye Hospital, Philadelphia, PA, USA.
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.
