ArticleInvestigative ophthalmology & visual science2024
Evaluation of Circulating Tumor DNA as a Liquid Biomarker in Uveal Melanoma.
Article in Investigative ophthalmology & visual science, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.
- Prognostic and Predictive Value of ctDNA for Metastatic Uveal Melanoma: A Systematic Review and Meta-Analysis.Pigment cell & melanoma research · 2025Pooled it
- National Coordinated Care and Translational Research Program for Uveal Melanoma Pilot: Infrastructure, Biobanking, and Challenges in Liquid Biopsy Implementation in a Latin American Country.Ocular oncology and pathology · 2026Article
- Circulating tumor DNA accelerates diagnosis and treatment guidance for metastatic uveal melanoma with hepatic lesions not amenable to biopsy.Melanoma research · 2026Article
- Review
- Precision Oncology in Ocular Melanoma: Integrating Molecular and Liquid Biopsy Biomarkers.Current issues in molecular biology · 2026Review
- Circulating Tumor Cells in Uveal Melanoma: Multi-Marker Detection and Association With Disease State.Investigative ophthalmology & visual science · 2026Article
- Methylated CfDNA may distinguish between high- and intermediate-risk uveal melanoma: a pilot study.Cancer cell international · 2025Article
- Blood-Based Cell-Free DNA in Ophthalmic Oncology.Translational vision science & technology · 2025Review
- Liquid biopsy as a potential tool for diagnosis and clinical monitoring of cutaneous and uveal melanoma.The journal of liquid biopsy · 2025Review
- State-of-the-art in Metastatic Uveal Melanoma Treatment: A 2025 Update : How to treat Metastatic Uveal Melanoma in 2025.Current oncology reports · 2025Review
- Prognostic Biomarkers in Evolving Melanoma Immunotherapy.American journal of clinical dermatology · 2025Review
- Expert Opinions on Uveal Melanoma: Insights from the 58th Ophthalmic Oncology Group Meeting.Ocular oncology and pathology · 2024Article
- Optimizing ctDNA: An Updated Review of a Promising Clinical Tool for the Management of Uveal Melanoma.Cancers · 2024Review
- Liquid Biopsy and Ocular Tumors: A Review.Journal of current ophthalmologyReview
Corrections and comments
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Authors and funding
17 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: Uveal melanoma (UM) has a high propensity to metastasize. Prognosis is associated with specific driver mutations and copy number variations (CNVs), but limited primary tumor tissue is available for molecular characterization due to eye-sparing irradiation treatment. This study aimed to assess the rise in circulating tumor DNA (ctDNA) levels in UM and evaluate its efficacy for CNV-profiling of patients with UM. Methods: In a pilot study, we assessed ctDNA levels in the blood of patients with UM (n = 18) at various time points, including the time of diagnosis (n = 13), during fractionated stereotactic radiotherapy (fSRT) treatment (n = 6), and upon detection of metastatic disease (n = 13). Shallow whole-genome sequencing (sWGS) combined with in silico size-selection was used to identify prognostically relevant CNVs in patients with UM (n = 26) from peripheral blood retrieved at the time of diagnosis (n = 9), during fSRT (n = 5), during post-treatment follow-up (n = 4), metastasis detection (n = 6), and metastasis follow-up (n = 4). Results: A total of 34 patients had blood analyzed for ctDNA detection (n = 18) and/or CNV analysis (n = 26) at various time points. At the time of diagnosis, 5 of 13 patients (38%) had detectable ctDNA (median = 0 copies/mL). Upon detection of metastatic disease, ctDNA was detected in 10 of 13 patients (77%) and showed increased ctDNA levels (median = 24 copies/mL, P < 0.01). Among the six patients analyzed during fSRT, three (50%) patients had detectable ctDNA at baseline and three of six (50%) patients had undetectable levels of ctDNA. During the fSRT regimen, ctDNA levels remained unchanged (P > 0.05). The ctDNA fractions were undetectable to low in localized disease, and sWGS did not elucidate chromosome 3 status from blood samples. However, in 7 of 10 (70%) patients with metastases, the detection of chromosome 3 loss corresponded to the high metastatic-risk class. Conclusions: The rise in ctDNA levels observed in patients with UM harboring metastases suggests its potential utility for CNV profiling. These findings highlight the potential of using ctDNA for metastasis detection and patient inclusion in therapeutic studies targeting metastatic UM.
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