Detection of metastases using circulating tumour DNA in uveal melanoma

Aaron B. Beasley*, Daniël P. de Bruyn, Leslie Calapre, Zeyad Al-Ogaili, Timothy W. Isaacs, Jacqueline Bentel, Anna L. Reid, Roy S. Dwarkasing, Michelle R. Pereira, Muhammad A. Khattak, Tarek M. Meniawy, Michael Millward, Erwin Brosens, Annelies de Klein, Fred K. Chen, Emine Kiliҫ, Elin S. Gray*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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Approximately 50% of uveal melanoma (UM) patients will develop metastatic disease depending on the genetic features of the primary tumour. Patients need 3–12 monthly scans, depending on their prognosis, which is costly and often non-specific. Circulating tumour DNA (ctDNA) quantification could serve as a test to detect and monitor patients for early signs of metastasis and therapeutic response. 


We assessed ctDNA as a biomarker in three distinct UM cohorts using droplet-digital PCR: (A) a retrospective analysis of primary UM patients to predict metastases; (B) a prospective analysis of UM patients after resolution of their primary tumour for early detection of metastases; and (C) monitoring treatment response in metastatic UM patients. 


Cohort A: ctDNA levels were not associated with the development of metastases. Cohort B: ctDNA was detected in 17/25 (68%) with radiological diagnosis of metastases. ctDNA was the strongest predictor of overall survival in a multivariate analysis (HR = 15.8, 95% CI 1.7–151.2, p = 0.017). Cohort C: ctDNA monitoring of patients undergoing immunotherapy revealed a reduction in the levels of ctDNA in patients with combination immunotherapy. 


Our proof-of-concept study shows the biomarker feasibility potential of ctDNA monitoring in for the clinical management of uveal melanoma patients.

Original languageEnglish
Pages (from-to)14953-14963
Number of pages11
JournalJournal of Cancer Research and Clinical Oncology
Issue number16
Early online date22 Aug 2023
Publication statusPublished - Nov 2023

Bibliographical note

Funding Information:
Open Access funding enabled and organized by CAUL and its Member Institutions. This study was funded by a Raine Medical Research Foundation Priming Grant and an Ophthalmic Research Institute of Australia Grant to ESG and an Australian Melanoma Research Foundation Postgraduate research grant awarded to ABB.

Publisher Copyright:
© 2023, The Author(s).


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