Familial intraocular malignant melanoma.A Case Report

Abstract

A family with histopathologically proven intraocular malignant melanoma involving two generations is reported. A member of third generation was likely involved by history. Intraocular malignant melanoma, its familial occurrence, its occurrence with multiple malignancies, and its relationship to multiple malignancies occurring in a family are discussed.

Germline BAP1 alterations in familial uveal melanoma

“…A PubMed search was directed with the key words “familial uveal melanoma,” “familial ocular melanoma,” and “familial eye melanoma”. Excluding reports by our own group, a total of 28 articles describing 115 independent families with multiple UM diagnoses were identified (https://docs.google.com/spreadsheets/d/1rb0qu-4d_rPjW7qs6G1-GyfEsepWtas40QM230_4Dfg/edit?usp=sharing: Lynch et al, ; Green et al, ; Oosterhuis et al, ; Canning and Hungerford, ; Jay and McCartney, ; Young et al, ; Wang et al, ; Singh et al, , , ; van Hees et al, ; Soufir et al, ; Krygier et al, ; Hearle et al, ; Kodjikian et al, ; Barker‐Griffith and Streeten, ; Jonsson et al, ; Smith et al, ; Njauw et al, ; Wadt et al, , ; Aoude et al, ; Cheung et al, ; Hoiom et al, ; Popova et al, ; Maerker et al, ; Gupta et al, ; Turunen et al, ). Out of those, 39 families had undergone BAP1 testing; seven of these were single case reports.…”

Familial uveal melanoma: a report on two families and a review of the literature

“…In the two other cases, the histology showed a mixed‐cell melanoma and a B spindle‐cell melanoma. Histopathological studies published in the literature showed that mixed‐cell melanoma was the predominant cell type (Bowen et al 1964; Green et al 1978; Walker et al 1979; Canning & Hungerford 1988; Singh et al 1996a), followed by spindle‐cell melanoma (Pfingst & Graves 1921; Simons et al 1983; Singh et al 1996a) (60% and 32%, respectively, in Singh et al 1996a). Within one set of kindred, histopathological findings were often uniform.…”

“…A second primary malignant neoplasm in the probands (Green et al 1978; Young et al 1994; Singh et al 1996a; Krygier et al 2001) or malignant neoplasm in the probands' relatives (Lynch et al 1968; Green et al 1978; Young et al 1994; Singh et al 1996a; Krygier et al 2001) seems to be rather common. Singh et al (1996a) estimated that the presence of a second primary malignant neoplasm was four times higher in probands of familial uveal melanoma than the expected prevalence of other cancers (all sites), based on data on age‐ and sex‐specific prevalence derived from the Connecticut Tumor Registry.…”

“…To our knowledge, only 69 families (150 patients) have been reported so far as exhibiting uveal melanomas in more than one family member. Sixty‐one families had one affected member in addition to the proband (Pfingst & Graves 1921; Waardenburg 1940; Paton & Thomas 1959; Bowen et al 1964; Lynch et al 1968; Tasman 1970; Simons et al 1983; Gutmann 1985; Canning & Hungerford 1988; Young et al 1994; Bercher et al 1995; Singh et al 1996a; Van Hees et al 1998; Singh et al 2000; Soufir et al 2000); six families had two additional affected members (Lynch et al 1968; Green et al 1978; Walker et al 1979; Bercher et al 1995; Singh et al 1996a; Krygier et al 2001); one family had three (Young et al 1994) and one family had four additional affected members (Silcock 1892; Davenport 1927). Our study of two additional cases of family uveal melanoma increases the total number of familial clusters reported in the literature.…”

“…In some cases, it may be inherited, although the occurrence of familial uveal melanoma is rare, comprising only 0.6% of all uveal melanoma patients (Singh et al 1996a). Since the initial report of a case of hereditary uveal melanoma by Silcock (1892), 69 additional families (150 patients) have been described (Pfingst & Graves 1921; Davenport 1927; Waardenburg 1940; Paton & Thomas 1959; Bowen et al 1964; Lynch et al 1968; Tasman 1970; Green et al 1978; Walker et al 1979; Simons et al 1983; Gutmann 1985; Canning & Hungerford 1988; Young et al 1994; Bercher et al 1995; Van Hees et al 1998; Singh et al 2000; Soufir et al 2000; Krygier et al 2001). This report describes the case histories of two additional families, each of which included two members with uveal melanomas (two cousins and a pair of siblings).…”