Kulbay Merve, Marcotte Emily, Remtulla Raheem, Lau Tsz Hin Alexander, Paez-Escamilla Manuel, Wu Kevin Y, Burnier Miguel N
Department of Ophthalmology & Visual Sciences, McGill University, Montreal, QC H4A 3S5, Canada.
McGill University Ocular Pathology and Translational Research Laboratory, McGill University, Montreal, QC H4A 3J1, Canada.
Biomedicines. 2024 Aug 5;12(8):1758. doi: 10.3390/biomedicines12081758.
Uveal melanoma (UM) is the most common intraocular malignancy in adults. Recent advances highlight the role of tumor-derived extracellular vesicles (TEV) and circulating hybrid cells (CHC) in UM tumorigenesis. Bridged with liquid biopsies, a novel technology that has shown incredible performance in detecting cancer cells or products derived from tumors in bodily fluids, it can significantly impact disease management and outcome. The aim of this comprehensive literature review is to provide a summary of current knowledge and ongoing advances in posterior UM pathophysiology, diagnosis, and treatment. The first section of the manuscript discusses the complex and intricate role of TEVs and CHCs. The second part of this review delves into the epidemiology, etiology and risk factors, clinical presentation, and prognosis of UM. Third, current diagnostic methods, ensued by novel diagnostic tools for the early detection of UM, such as liquid biopsies and artificial intelligence-based technologies, are of paramount importance in this review. The fundamental principles, limits, and challenges associated with these diagnostic tools, as well as their potential as a tracker for disease progression, are discussed. Finally, a summary of current treatment modalities is provided, followed by an overview of ongoing preclinical and clinical research studies to provide further insights on potential biomolecular pathway alterations and therapeutic targets for the management of UM. This review is thus an important resource for all healthcare professionals, clinicians, and researchers working in the field of ocular oncology.
葡萄膜黑色素瘤(UM)是成人中最常见的眼内恶性肿瘤。最近的进展凸显了肿瘤来源的细胞外囊泡(TEV)和循环杂交细胞(CHC)在UM肿瘤发生中的作用。与液体活检相结合,这是一项在检测体液中癌细胞或肿瘤衍生产物方面表现出惊人性能的新技术,它可以显著影响疾病管理和治疗结果。这篇全面的文献综述的目的是总结后葡萄膜黑色素瘤病理生理学、诊断和治疗方面的现有知识和当前进展。手稿的第一部分讨论了TEV和CHC的复杂而微妙的作用。本综述的第二部分深入探讨了UM的流行病学、病因和危险因素、临床表现及预后。第三,当前的诊断方法,以及用于早期检测UM的新型诊断工具,如液体活检和基于人工智能的技术,在本综述中至关重要。讨论了与这些诊断工具相关的基本原理、局限性和挑战,以及它们作为疾病进展追踪器的潜力。最后,提供了当前治疗方式的总结,接着概述了正在进行的临床前和临床研究,以进一步深入了解UM管理中潜在的生物分子途径改变和治疗靶点。因此,本综述是所有从事眼肿瘤学领域工作的医疗保健专业人员、临床医生和研究人员的重要资源。