Digital PCR-based genetic profiling from vitreous fluid as liquid biopsy for primary uveal melanoma: a proof-of-concept study
This proof-of-concept study shows that substantial amounts of DNA could be detected in vitreous fluids from uveal melanoma patients, including melanoma-cell derived DNA in 69% of the samples. Prognostically-relevant genetic alterations of the primary tumour could be identified in 45% of the patients. A follow-up study is needed to evaluate our approach in a prospective clinical context. Additionally, our work highlights improved possibilities to sensitively analyse scarce and heterogeneous tumour biopsies, with potential application in other malignancies.
Authors
- Pieter A. van der Velden (ORCID: https://orcid.org/0000-0002-5710-9256)
- Robert M. Verdijk (ORCID: https://orcid.org/0000-0003-1437-214X)
- Rogier J. Nell (ORCID: https://orcid.org/0000-0003-3530-3725)
- Maria Chiara Gelmi (ORCID: https://orcid.org/0000-0002-9099-009X)
- MJ JAGER
- T. H. Khanh Vu (ORCID: https://orcid.org/0000-0003-1809-4001)
- Nino V. Menger (ORCID: https://orcid.org/0000-0003-1672-3775)
- Maarten J. Versluis (ORCID: https://orcid.org/0000-0003-3601-0377)
- GPM LUYTEN
Institutions
- Leiden University Medical Center (NL)
- Erasmus MC (NL)
Publication Details
- Journal
- Journal of Experimental & Clinical Cancer Research
- Published
- 2025-04-17
- DOI
- https://doi.org/10.1186/s13046-025-03374-y
- Citations
- 3
- Primary Topic
- Ocular Oncology and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 5.12
Funders
- Horizon 2020 Framework Programme