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葡萄膜黑色素瘤的遗传和表观遗传特征——概述及临床意义。

Genetic and Epigenetic Features of Uveal Melanoma-An Overview and Clinical Implications.

机构信息

Department of Medical Chemistry, Biochemistry and Clinical Chemistry, School of Medicine, University of Zagreb, 10000 Zagreb, Croatia.

Department of Biology and Genetics, School of Medicine, University of Zagreb, 10000 Zagreb, Croatia.

出版信息

Int J Mol Sci. 2023 Aug 15;24(16):12807. doi: 10.3390/ijms241612807.

Abstract

Uveal melanoma (UM) is rare, but it is the most common primary intraocular malignancy among adults. This review represents the molecular, genetic, and immunobiological mechanisms involved in UM carcinogenesis and progression, as well as data about the association of chromosomal changes, genetic mutations, selective proteins, and biochemical biomarkers with the clinical implications of UM. Genetic analysis has the potential to identify patients with a high risk of UM metastasis, enabling management that is more effective and allowing for the follow-up of patients. Advancements in molecular characterization of UM offer opportunities to develop targeted therapeutic strategies by focusing on relevant signaling pathways. Changes in miRNA expression could be useful in the diagnosis and prognosis of UM, due to unique miRNA profiles in melanoma cells or tissue and its association with metastasis. Although liver function tests do not provide enough data on the prognosis of UM, due to the high frequency of liver metastasis, liver function tests (LFTs) might be useful indicators; however, the absence of rising LFT values cannot lead to the exclusion of liver metastases. Molecular analysis of tumor tissue will allow us to identify patients with the added benefit of new therapeutic agents and provide a better insight into melanoma pathogenesis and its biological behavior.

摘要

葡萄膜黑色素瘤(UM)较为罕见,但它是成年人中最常见的原发性眼内恶性肿瘤。本综述介绍了 UM 发生和进展过程中涉及的分子、遗传和免疫生物学机制,以及有关染色体变化、遗传突变、选择性蛋白和生化生物标志物与 UM 的临床意义之间关联的数据。遗传分析有可能识别出 UM 转移风险较高的患者,从而使管理更加有效,并对患者进行随访。UM 的分子特征分析为通过关注相关信号通路开发靶向治疗策略提供了机会。miRNA 表达的变化可能有助于 UM 的诊断和预后,因为黑色素瘤细胞或组织中存在独特的 miRNA 谱,并且与转移相关。尽管肝功能检查不能为 UM 的预后提供足够的数据,因为肝脏转移的频率很高,但肝功能检查(LFT)可能是有用的指标;然而,LFT 值没有升高并不能排除肝转移的存在。肿瘤组织的分子分析将使我们能够识别出受益于新治疗药物的患者,并深入了解黑色素瘤的发病机制及其生物学行为。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd1f/10454135/1cfd302e8a06/ijms-24-12807-g001.jpg

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