葡萄膜黑色素瘤的遗传基础。

The genetic basis of uveal melanoma.

作者信息

Nielsen M, Dogrusöz M, Bleeker J C, Kroes W G, van Asperen C A, Marinkovic M, Luyten G P M, Jager M J

机构信息

Department of clinical genetics, Building 1, K5-R, LUMC, P.O. Box 9600, 2300 RC, Leiden, The Netherlands.

Department of ophthalmology, LUMC, P.O. Box 9600, 2300 RC, Leiden, The Netherlands.

出版信息

J Fr Ophtalmol. 2015 Jun;38(6):516-21. doi: 10.1016/j.jfo.2015.04.003. Epub 2015 May 11.

DOI:10.1016/j.jfo.2015.04.003

PMID:25976137

Abstract

Uveal melanoma (UM) is the most common intraocular malignancy in adults with an incidence of about 1/100,000 new cases per year in the Western world. Risk factors are having a light skin, blond hair and blue eyes. As some UM patients have a young age at diagnosis or an affected family history for UM or other malignancies, there may be an underlying genetic basis. This review discusses known or suspected risk factors for UM, the cancer risk in UM patients and their family members, and the genes that have been reported to predispose to UM (germline mutations) and tumor development (somatic mutations).

摘要

葡萄膜黑色素瘤（UM）是成人中最常见的眼内恶性肿瘤，在西方世界每年的发病率约为每10万人中有1例新发病例。危险因素包括皮肤白皙、金发和蓝眼睛。由于一些UM患者诊断时年龄较小，或有UM或其他恶性肿瘤的家族病史，可能存在潜在的遗传基础。本综述讨论了已知或疑似的UM危险因素、UM患者及其家庭成员的癌症风险，以及据报道易患UM（种系突变）和肿瘤发展（体细胞突变）的基因。