Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Department of Dermatology, University of Connecticut School of Medicine, Farmington, Connecticut, USA; Department of Dermatology, University of Florida College of Medicine, Gainesville, Florida, USA.
Clin Dermatol. 2024 Jan-Feb;42(1):56-61. doi: 10.1016/j.clindermatol.2023.10.005. Epub 2023 Oct 26.
Uveal melanoma (UM) is the most common primary eye malignancy. Despite excellent local tumor rates, UM is a life-threatening disease with moderate systemic metastatic rates. In the past, certain clinical features were shown to be predictive of patient prognosis, including tumor thickness, tumor diameter, ciliary body involvement, and histopathologic factors. Genetic markers have lately been used to predict patient outcomes. The Cancer Genome Atlas (TCGA) is a worldwide effort developed by the National Cancer Institute and the National Human Genome Research Institute to study numerous mutations in various cancer types. TCGA has explored chromosome copy number alterations in UM, messenger RNA, micro-RNA, and long noncoding RNA expression levels and established four prognostic classes: group A (chromosome 3 and 8 disomy), group B (chromosome 3 disomy and 8q gain), group C (chromosome 3 monosomy and/or 8q gain), and group D (chromosome 3 monosomy and multiple 8q gains). Multiple studies have validated TCGA classification and have reported that it has been highly predictive of UM metastasis and patient survival.
葡萄膜黑色素瘤（UM）是最常见的原发性眼内恶性肿瘤。尽管局部肿瘤控制率很好，但 UM 是一种危及生命的疾病，其系统转移率中等。过去，某些临床特征被证明可以预测患者的预后，包括肿瘤厚度、肿瘤直径、睫状体受累以及组织病理学因素。最近，遗传标志物已被用于预测患者的预后。癌症基因组图谱（TCGA）是由美国国立癌症研究所和国家人类基因组研究所联合开展的一项全球性研究计划，旨在研究多种癌症类型中的大量突变。TCGA 探索了 UM 中的染色体拷贝数改变、信使 RNA、微小 RNA 和长非编码 RNA 的表达水平，并建立了四个预后分类：A 组（3 号和 8 号染色体二倍体）、B 组（3 号染色体二倍体和 8q 增益）、C 组（3 号染色体单体和/或 8q 增益）和 D 组（3 号染色体单体和多个 8q 增益）。多项研究已经验证了 TCGA 分类，并报告称其对 UM 转移和患者生存具有高度预测性。
