ArticleCancer medicine2021
Early detection of metastatic uveal melanoma by the analysis of tumor-specific mutations in cell-free plasma DNA.
Article in Cancer medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 23 citations in OpenAlex.
- 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
- Sensitivity and prognostic significance of circulating tumor DNA (ctDNA) in stage I to III malignant melanoma.Journal of cancer research and clinical oncology · 2026Article
- Circulating tumor DNA in neoadjuvant therapy for solid tumors.Frontiers in oncology · 2026Review
- Article
- Blood-Based Cell-Free DNA in Ophthalmic Oncology.Translational vision science & technology · 2025Review
- Presence of tumor DNA in aqueous humor is correlated with high risk uveal melanoma.Scientific reports · 2025Article
- Circulating tumor DNA to monitor treatment response in solid tumors and advance precision oncology.NPJ precision oncology · 2025Review
- Optimizing ctDNA: An Updated Review of a Promising Clinical Tool for the Management of Uveal Melanoma.Cancers · 2024Review
- Evaluation of Circulating Tumor DNA as a Liquid Biomarker in Uveal Melanoma.Investigative ophthalmology & visual science · 2024Article
- Geographic Patterns of Ocular Oncologist Supply and Patient Demand for Uveal Melanoma Treatment in the United States: A Supply and Demand Analysis.Clinical ophthalmology (Auckland, N.Z.) · 2024Article
- The role of circulating tumor DNA in melanomas of the uveal tract.Frontiers in immunology · 2024Review
- Review
- Circulating Tumor DNA Is a Variant of Liquid Biopsy with Predictive and Prognostic Clinical Value in Breast Cancer Patients.International journal of molecular sciences · 2023Review
- Detection of metastases using circulating tumour DNA in uveal melanoma.Journal of cancer research and clinical oncology · 2023Article
- Release of Cell-Free Tumor DNA in the Plasma of Uveal Melanoma Patients Under Radiotherapy.Investigative ophthalmology & visual science · 2023Article
- Future perspectives of uveal melanoma blood based biomarkers.British journal of cancer · 2022Review
- Is Tissue Still the Issue? The Promise of Liquid Biopsy in Uveal Melanoma.Biomedicines · 2022Review
- Prognostic Biomarkers in Uveal Melanoma: The Status Quo, Recent Advances and Future Directions.Cancers · 2021Review
- Liquid Biopsies beyond Mutation Calling: Genomic and Epigenomic Features of Cell-Free DNA in Cancer.Cancers · 2021Review
- Early detection of metastatic uveal melanoma by the analysis of tumor-specific mutations in cell-free plasma DNA.Cancer medicine · 2021Article
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7 authors at 1 institution in 1 country.
Funding
Abstract
backgroundEye salvaging therapy of malignant melanomas of the uvea can preserve the eye in most cases, but still about half of patients die from metastatic disease. Previous analyses of cell-free DNA from plasma had shown detectable levels of tumor-specific GNAQ/GNA11 mutations in patients with the clinical diagnosis of progressive disease. However, data on the time span that elapses from the detection of ctDNA in plasma to the clinical detection of metastases (diagnostic lead time) are missing.
methodsWe examined 135 patients with uveal melanoma. Cell-free DNA was isolated from a total of 807 blood samples which were taken over a period of up to 41 months and analyzed for the presence of GNAQ/GNA11 mutations by deep amplicon sequencing.
resultsTwenty-one of the 135 patients developed metastases or recurrence. A ctDNA signal was identified in the plasma of 17 of the 21 patients. In 10 patients, this ctDNA signal preceded the clinical diagnosis of metastasis by 2-10 months. In 10 other patients, a ctDNA signal was only detected in samples obtained shortly before or after radiotherapy. The presence of a ctDNA signal in 16 of the remaining 125 patients was linked to clinical manifestation of metastases (n = 14) or tumor recurrence (n = 2) with a sensitivity and specificity of 80% and 96%, respectively.
conclusionDetection of ctDNA in plasma can provide a diagnostic lead time over the clinical diagnosis of metastases or tumor recurrence. Longer lead times are to be expected if intervals between sampling are shortened.
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