Exploration of Aqueous Biomarkers from Retinoblastoma to Uveal Melanoma

Over the past decade, aqueous humor liquid biopsy has emerged as a transformative tool in ocular oncology, enabling minimally invasive molecular profiling of intraocular tumors from small-volume aqueous samples. Pioneered in retinoblastoma, this work demonstrated that cell-free DNA and ctDNA correlate with disease activity and prognosis, and that RB1 mutations can be reliably tracked across treatment — findings that established the clinical foundation for the LBSeq4Kids platform. Serial aqueous sampling has since proven valuable for guiding therapy and identifying patients at risk for metastatic progression without systemic biopsy. Now, this liquid biopsy framework is being extended to uveal melanoma, where modeled aqueous humor protein concentrations are opening a new avenue for biomarker discovery and non-invasive disease characterization.