Related Experiment Video
Updated: Aug 13, 2026
Biobanking of Human Aqueous and Vitreous Liquid Biopsies for Molecular Analyses
Published on: September 11, 2023
National Coordinated Care and Translational Research Program for Uveal Melanoma Pilot: Infrastructure, Biobanking,
Santiago A Sepúlveda1,2, César Luna3,4, Eduardo Labbé3,4
1Pathology Department, Pontificia Universidad Católica de Chile, Santiago, Chile.
Introduction:
Uveal melanoma (UM) is a rare malignancy in Latin America (LA), where coordinated clinical and translational research initiatives remain limited. We evaluated the implementation of a national referral and biobanking program for UM in Chile and assessed the feasibility of liquid biopsy workflows in a middle-income healthcare setting.
Methods:
We established a coordinated national clinical and translational research program for UM in Chile, integrating centralized referral, standardized workflows, biobanking, and longitudinal sampling. Patients were prospectively recruited through a national referral network between 2021 and 2025. Both solid tissue and liquid biopsy biospecimens were processed under standardized protocols and assessed for downstream molecular analyses.
Results:
A total of 45 patients with UM were recruited nationwide. A total of 76 biospecimen sets were processed with complete pre-analytical traceability. Profiling of plasma-derived cell-free DNA showed characteristic fragment patterns. Formalin-fixed paraffin-embedded (FFPE)-derived tumor DNA and paired non-tumor (matched) DNA met quality thresholds for next-generation sequencing (NGS). However, in this pilot setting, circulating tumor DNA (ctDNA) quantities were insufficient to consistently recover the full spectrum of tumor-associated genomic alterations identified in matched FFPE samples through NGS.
Conclusions:
This study demonstrates the feasibility of implementing a coordinated national clinical and translational research framework for UM within a middle-income healthcare setting with heterogeneous access to specialized molecular infrastructure. While standardized biospecimen collection and liquid biopsy workflows can be successfully established, limitations related to ctDNA abundance and persistent disparities in geographic and financial access to specialized care remain. This national model provides a scalable foundation for future multicenter studies, prospective biomarker validation, and biomarker-driven and molecularly informed studies in LA UM populations.
