Choroidal Malignant Melanoma in Siblings

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.…”

“…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.…”

“…This view is supported by the findings that some of the predisposing factors for uveal melanoma, such as neurofibromatosis type 1 and possibly FAM–M syndrome, are also inherited as autosomal dominant traits (Gonder et al 1981; Oosterhuis et al 1982; Specht & Smith 1988; Singh & Donoso 1993; Krygier et al 2001). However, a review of published reports on sets of kindred with familial uveal melanoma revealed that involvement over many generations was very rare and usually only one additional first‐degree relative in a given family had uveal melanoma (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). When a pair of siblings is affected in a given family (Paton & Thomas 1959; Lynch et al 1968; Simons et al 1983; Canning & Hungerford 1988), the suspected pattern of inheritance may be an autosomal recessive mode, even if there is no consanguineous marriage.…”

“…However, a review of published reports on sets of kindred with familial uveal melanoma revealed that involvement over many generations was very rare and usually only one additional first‐degree relative in a given family had uveal melanoma (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). When a pair of siblings is affected in a given family (Paton & Thomas 1959; Lynch et al 1968; Simons et al 1983; Canning & Hungerford 1988), the suspected pattern of inheritance may be an autosomal recessive mode, even if there is no consanguineous marriage. When two brothers are affected, the suspected pattern of inheritance may be a recessive X‐linked mode.…”

“…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).…”