University Côte d'Azur, France; Inserm, Biology and Pathologies of Melanocytes, Team1, Equipe Labellisée Ligue 2020 and Equipe Labellisée ARC 2019, Centre Méditerranéen de Médecine Moléculaire, Nice, France.
University Côte d'Azur, France; Centre Hospitalier Universitaire de Nice, Department of Ophthalmology, Nice, France.
Prog Retin Eye Res. 2021 Nov;85:100968. doi: 10.1016/j.preteyeres.2021.100968. Epub 2021 Apr 15.
Uveal melanoma (UM) is an aggressive and deadly neoplasm. In recent decades, great efforts have been made to obtain a more comprehensive understanding of genetics, genomics and molecular changes in UM, enabling the identification of key cellular processes and signalling pathways. Still, there is no effective treatment for the metastatic disease. Intratumoural heterogeneity (ITH) is thought to be one of the leading determinants of metastasis, therapeutic resistance and recurrence. Crucially, tumours are complex ecosystems, where cancer cells, and diverse cell types from their microenvironment engage in dynamic spatiotemporal crosstalk that allows cancer progression, adaptation and evolution. This highlights the urgent need to gain insight into ITH in UM and its intersection with the microenvironment to overcome treatment failure. Here we provide an overview of the studies and technologies to study ITH in human UMs and tumour micro-environmental composition. We discuss how to incorporate ITH into clinical consideration for the purpose of advocating for new clinical management. We focus on the application of single-cell transcriptomic analysis and propose that understanding the driving forces and functional consequences of the observed tumour heterogeneity holds promise for changing the treatment paradigm of metastatic UMs, surmounting resistance and improving patient prognosis.
葡萄膜黑色素瘤(UM)是一种侵袭性和致命性的肿瘤。近几十年来,人们做出了巨大的努力来更全面地了解 UM 的遗传学、基因组学和分子变化,从而能够识别关键的细胞过程和信号通路。尽管如此,对于转移性疾病仍然没有有效的治疗方法。肿瘤内异质性(ITH)被认为是导致转移、治疗耐药和复发的主要决定因素之一。至关重要的是,肿瘤是一个复杂的生态系统,其中癌细胞和来自其微环境的多种细胞类型在时空上进行动态相互作用,从而允许癌症的进展、适应和进化。这突出表明迫切需要深入了解 UM 中的 ITH 及其与微环境的交叉,以克服治疗失败。在这里,我们概述了研究人类 UM 中的 ITH 和肿瘤微环境组成的研究和技术。我们讨论了如何将 ITH 纳入临床考虑,以倡导新的临床管理。我们专注于单细胞转录组分析的应用,并提出理解观察到的肿瘤异质性的驱动因素和功能后果有望改变转移性 UM 的治疗模式,克服耐药性并改善患者预后。