Abstract
Uveal melanoma (UM) is the most common primary intraocular malignancy affecting adults. Despite successful local treatment of the primary tumour, metastatic disease develops in up to 50% of patients. Metastatic UM carries a particularly poor prognosis, with no effective therapeutic option available to date. Genetic studies of UM have demonstrated that cytogenetic features, including gene expression, somatic copy number alterations and specific gene mutations can allow more accurate assessment of metastatic risk. Pre-emptive therapies to avert metastasis are being tested in clinical trials in patients with high-risk UM. However, current prognostic methods require an intraocular tumour biopsy, which is a highly invasive procedure carrying a risk of vision-threatening complications and is limited by sampling variability. Recently, a new diagnostic concept known as “liquid biopsy” has emerged, heralding a substantial potential for minimally invasive genetic characterisation of tumours. Here, we examine the current evidence supporting the potential of blood circulating tumour cells (CTCs), circulating tumour DNA (ctDNA), microRNA (miRNA) and exosomes as biomarkers for UM. In particular, we discuss the potential of these biomarkers to aid clinical decision making throughout the management of UM patients.
RAS ID
45162
Document Type
Journal Article
Date of Publication
1-1-2022
Funding Information
Cancer Council of Western Australia
National Health and Medical Research Council
Ophthalmic Research Institute of Australia
CAUL and its Member Institutions
PubMed ID
35190695
School
School of Medical and Health Sciences / Centre for Precision Health
Grant Number
NHMRC Number : MRF1142962
Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.
Publisher
Nature
Comments
Beasley, A. B., Chen, F. K., Isaacs, T. W., & Gray, E. S. (2022). Future perspectives of uveal melanoma blood based biomarkers. British Journal of Cancer, 126, 1511-1528.
https://doi.org/10.1038/s41416-022-01723-8