葡萄膜黑色素瘤的遗传学特征。
Genetic Features of Uveal Melanoma.
机构信息
Unit of Ophthalmology, Department of Surgical Sciences, Ospedale Maggiore, 40100 Bologna, Italy.
Department of Translational Medicine and for Romagna, University of Ferrara, 44100 Ferrara, Italy.
出版信息
Genes (Basel). 2024 Oct 22;15(11):1356. doi: 10.3390/genes15111356.
BACKGROUND/OBJECTIVES: Although it comprises only 5% of all melanomas, uveal melanoma (UM) is the most commonly observed primary intraocular cancer.
METHODS
Poor patient survival persists in spite of innovative systemic therapies. In fact, approximately fifty percent of UM patients develop metastases from micro-metastases that remain undetected at the exact time of diagnosis.
RESULTS
The molecular understanding of UM is significantly enhanced by the recent identification of several mutations that are responsible for the metastasis, growth, and survival of UM. The crucial point is a more accurate genetic analysis for patient follow-up and metastatic risk prediction.
CONCLUSIONS
This review provides a brief summary of the molecular features of UM that are recently discovered, as well as cytogenetic markers and biochemical pathways that are associated with the development of UM metastases.
背景/目的：尽管葡萄膜黑色素瘤（UM）仅占所有黑色素瘤的 5%，但它是最常见的原发性眼内癌。
方法
尽管采用了创新的系统治疗方法，但患者的生存状况仍不容乐观。事实上，大约有 50%的 UM 患者会出现转移，而这些转移在诊断时仍未被检测到。
结果
最近发现的几个突变负责 UM 的转移、生长和存活，这极大地促进了对 UM 的分子理解。关键是进行更精确的基因分析，以进行患者随访和转移风险预测。
结论
本综述简要总结了最近发现的 UM 的分子特征，以及与 UM 转移发展相关的细胞遗传学标记和生化途径。
Zotero 插件