Rare Pediatric Eye Cancer Research: Insights From the Kids Eye Biobank.

Abstract

Rare pediatric eye cancers (R-PECs) encompass over 30 benign and malignant neoplasms affecting various ocular structures. Despite their potential for severe morbidity and mortality, many R-PECs remain poorly understood due to their rarity, clinical heterogeneity, and the limited availability of high-quality biospecimens. The historic example of retinoblastoma illustrates how access to well-annotated tumor tissue enabled groundbreaking discoveries, including the identification of the RB1 gene and MYCN-amplified retinoblastoma. However, a lack of centralized, high-quality resources continues to hinder progress across the spectrum of R-PECs. Biobanking offers a solution by systematically collecting, storing, and sharing biospecimens and data under standardized protocols and formal governance. Pediatric biobanks face unique ethical and operational challenges, including obtaining dynamic consent and safeguarding participant autonomy. Yet, they also offer unique opportunities, including the creation of renewable models (eg,. organoids, cell lines) and the integration of imaging and multiomics data. This review highlights these opportunities and challenges, drawing on insights from the Kids Eye Biobank. Through structured resource collection, governance, and patient engagement, the Kids Eye Biobank demonstrates how biobanking can transform R-PEC research and accelerate discovery in this underserved area.