McCarthy J M, Rootman J, Horsman D, White V A
Department of Pathology, Vancouver General Hospital, BC, Canada.
Surv Ophthalmol. 1993 Mar-Apr;37(5):377-86. doi: 10.1016/0039-6257(93)90068-i.
The dysplastic nevus syndrome was conceptualized in the late 1970s, and the subsequent proposal of a genetic relationship with ocular melanoma has stimulated debate in the literature which remains unresolved. We present the case of a 60-year-old man with histologically proven sporadic dysplasic nevus syndrome and a prior history of nine cutaneous melanomas, who developed a large, exophytic melanoma of the cornea and limbal conjunctiva. Cytogenetic analysis of this melanoma revealed a clonal 1;14 translocation. We believe this is the first reported case to use cytogenetic techniques in the analysis of conjunctival melanoma, either associated with dysplastic nevus syndrome or in isolation. We review the clinical literature as well as the cytogenetic and molecular genetic data related to the possible association of cutaneous melanoma, conjunctival and uveal melanoma and the dysplastic nevus syndrome.
发育异常痣综合征于20世纪70年代末被提出，随后关于其与眼黑色素瘤存在遗传关系的提议引发了文献中的争论，至今仍未解决。我们报告了一例60岁男性病例，其组织学证实为散发性发育异常痣综合征，既往有9次皮肤黑色素瘤病史，此次发生了角膜和睑结膜的巨大外生性黑色素瘤。对该黑色素瘤的细胞遗传学分析显示存在克隆性1;14易位。我们认为这是首例使用细胞遗传学技术分析结膜黑色素瘤的报道病例，该结膜黑色素瘤要么与发育异常痣综合征相关，要么为孤立性。我们回顾了临床文献以及与皮肤黑色素瘤、结膜和葡萄膜黑色素瘤以及发育异常痣综合征可能关联相关的细胞遗传学和分子遗传学数据。
