Scientific and clinical implications of genetic and cellular heterogeneity in uveal melanoma

• Main Authors: Mark J. de Lange, Rogier J. Nell, Pieter A. van der Velden
• Format: Article
• Language: English
• Published: Springer 2021-08-01
• Series: Molecular Biomedicine
• Subjects: Uveal melanoma; Heterogeneity; Precursor lesion; Driver mutation; Immune infiltrate
• Online Access: https://doi.org/10.1186/s43556-021-00048-x

Abstract Here, we discuss the presence and roles of heterogeneity in the development of uveal melanoma. Both genetic and cellular heterogeneity are considered, as their presence became undeniable due to single cell approaches that have recently been used in uveal melanoma analysis. However, the presence of precursor clones and immune infiltrate in uveal melanoma have been described as being part of the tumour already decades ago. Since uveal melanoma grow in the corpus vitreous, they present a unique tumour model because every cell present in the tumour tissue is actually part of the tumour and possibly plays a role. For an effective treatment of uveal melanoma metastasis, it should be clear whether precursor clones and normal cells play an active role in progression and metastasis. We propagate analysis of bulk tissue that allows analysis of tumour heterogeneity in a clinical setting.