Familial uveal melanoma

Clinical observations on 56 patients

Arun D. Singh, Carol L. Shields, Patrick De Potter, Jerry A. Shields, Bruce Trock, Jacqueline Cater, Domenic Pastore

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Pages (from-to)392-399
Number of pages8
JournalArchives of Ophthalmology
Volume114
Issue number4
StatePublished - Apr 1996
Externally publishedYes

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Second Primary Neoplasms
Cutaneous Malignant Melanoma
Uveal melanoma
Inheritance Patterns
Tertiary Care Centers
Melanoma
Neoplasms
Skin
Incidence
Population
Clinical Studies

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Singh, A. D., Shields, C. L., De Potter, P., Shields, J. A., Trock, B., Cater, J., & Pastore, D. (1996). Familial uveal melanoma: Clinical observations on 56 patients. Archives of Ophthalmology, 114(4), 392-399.

Familial uveal melanoma : Clinical observations on 56 patients. / Singh, Arun D.; Shields, Carol L.; De Potter, Patrick; Shields, Jerry A.; Trock, Bruce; Cater, Jacqueline; Pastore, Domenic.

In: Archives of Ophthalmology, Vol. 114, No. 4, 04.1996, p. 392-399.

Research output: Contribution to journalArticle

Singh, AD, Shields, CL, De Potter, P, Shields, JA, Trock, B, Cater, J & Pastore, D 1996, 'Familial uveal melanoma: Clinical observations on 56 patients', Archives of Ophthalmology, vol. 114, no. 4, pp. 392-399.
Singh AD, Shields CL, De Potter P, Shields JA, Trock B, Cater J et al. Familial uveal melanoma: Clinical observations on 56 patients. Archives of Ophthalmology. 1996 Apr;114(4):392-399.
Singh, Arun D. ; Shields, Carol L. ; De Potter, Patrick ; Shields, Jerry A. ; Trock, Bruce ; Cater, Jacqueline ; Pastore, Domenic. / Familial uveal melanoma : Clinical observations on 56 patients. In: Archives of Ophthalmology. 1996 ; Vol. 114, No. 4. pp. 392-399.
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abstract = "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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