Department of Ophthalmology, University of Bonn, Bonn, Germany.
Department of Neurology, University of Bonn, Bonn, Germany.
Clin Genet. 2018 May;93(5):952-961. doi: 10.1111/cge.13136. Epub 2018 Jan 24.
Uveal melanoma (UM) is the most frequent primary intraocular tumor in Caucasian adults and is potentially fatal if metastases develop. While several prognostic genetic changes have been identified in UM, epigenetic influences are now getting closer attention. Recent technological advances have allowed to exam the human genome to a greater extent and have improved our understanding of several diseases including malignant tumors. In this context, there has been tremendous progress in the field of UM pathogenesis. Herein, we review the literature with emphasis on genetic alterations, epigenetic modifications and signaling pathways as well as possible biomarkers in UM. In addition, different research models for UM are discussed. New insights and major challenges are outlined in order to evaluate the current status for this potentially devastating disease.
葡萄膜黑色素瘤(UM)是白种人成年人中最常见的原发性眼内肿瘤,如果发生转移则具有潜在致命性。虽然已经确定了 UM 中的几种预后遗传改变,但现在越来越关注表观遗传影响。最近的技术进步使我们能够更深入地研究人类基因组,并提高了我们对包括恶性肿瘤在内的几种疾病的认识。在这方面,UM 发病机制领域取得了巨大进展。本文重点综述了 UM 中的遗传改变、表观遗传修饰和信号通路以及可能的生物标志物,并讨论了不同的 UM 研究模型。概述了新的见解和主要挑战,以便评估这种潜在破坏性疾病的现状。