Smith Jennifer H, Padnick-Silver Lissa, Newlin Anna, Rhodes Katrina, Rubinstein Wendy S
Division of Ophthalmology, Evanston Northwestern Healthcare, Glenview, Illinois, USA.
Ophthalmology. 2007 Apr;114(4):774-9. doi: 10.1016/j.ophtha.2006.08.041. Epub 2007 Jan 3.
To evaluate a kindred with familial uveal and cutaneous melanoma and to identify potential genetic and environmental factors that may predispose individuals to develop uveal melanoma.
Family-based case report with detailed clinical and genetic evaluation.
Ten siblings in a single nuclear family.
Evaluation of a large sibship via family history, complete eye and skin examinations, environmental risk factor questionnaire, and genetic testing, as well as a MEDLINE search of familial uveal melanoma kindreds.
Cutaneous and ocular nevi, benign and malignant neoplasms of skin and other sites, brief skin cancer risk assessment tool risk classification for cutaneous melanoma, DNA sequencing of p16INK4a and p14ARF genes, and citations on familial uveal melanoma.
The proband and his mother had uveal melanoma, 3 cutaneous melanomas occurred among 2 siblings, and 2 other siblings had basal cell carcinomas. No germline mutations were detected in the melanoma-associated tumor suppressor genes p16INK4a and p14ARF. Seven out of 10 siblings had a history of cutaneous and/or ocular nevi. Of the 3 subjects without nevi, 2 had histories of eye or skin malignancies (1 uveal melanoma, 1 basal cell carcinoma). Three of the 10 siblings had relevant ocular findings (2 choroidal nevi, 1 uveal melanoma). Six were also found to be in the "high-risk" classification for cutaneous malignancies based on scores from a previously validated risk assessment tool. This family, combined with the 91 previously reported familial uveal melanoma kindreds, brings to 92 the total number thus far recorded.
Our results strengthen the association between uveal melanoma, atypical nevi, and cutaneous melanoma. This relationship supports the recommendation that individuals with a personal or family history of uveal melanoma, particularly in combination with atypical nevi, should be regularly screened for uveal and cutaneous melanoma.
评估一个患有家族性葡萄膜和皮肤黑色素瘤的家族，并确定可能使个体易患葡萄膜黑色素瘤的潜在遗传和环境因素。
基于家族的病例报告，伴有详细的临床和基因评估。
一个核心家庭中的十名兄弟姐妹。
通过家族史、全面的眼部和皮肤检查、环境危险因素问卷、基因检测以及对家族性葡萄膜黑色素瘤家族的医学文献检索来评估一个大型同胞家族。
皮肤和眼部痣、皮肤及其他部位的良性和恶性肿瘤、皮肤黑色素瘤的简短皮肤癌风险评估工具风险分类、p16INK4a和p14ARF基因的DNA测序以及家族性葡萄膜黑色素瘤的文献引用。
先证者及其母亲患有葡萄膜黑色素瘤，2名兄弟姐妹中发生了3例皮肤黑色素瘤，另外2名兄弟姐妹患有基底细胞癌。在黑色素瘤相关的肿瘤抑制基因p16INK4a和p14ARF中未检测到种系突变。10名兄弟姐妹中有7人有皮肤和/或眼部痣病史。在3名没有痣的受试者中，2人有眼部或皮肤恶性肿瘤病史（1例葡萄膜黑色素瘤，1例基底细胞癌）。10名兄弟姐妹中有3人有相关的眼部表现（2例脉络膜痣，1例葡萄膜黑色素瘤）。根据先前验证的风险评估工具的评分，发现6人在皮肤恶性肿瘤的“高风险”分类中。这个家族，加上之前报道的91个家族性葡萄膜黑色素瘤家族，使迄今为止记录的总数达到92个。
我们的结果加强了葡萄膜黑色素瘤、非典型痣和皮肤黑色素瘤之间的关联。这种关系支持了这样的建议，即有葡萄膜黑色素瘤个人或家族病史的个体，特别是伴有非典型痣的个体，应该定期筛查葡萄膜和皮肤黑色素瘤。
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