Retinoblastoma: Aqueous humor liquid biopsy

Advances in retinoblastoma (RB) therapy have led to significantly improved ocular preservation rates, consequently limiting access to histologic and genomic information traditionally obtained from enucleated eyes. Moreover, genomic information from enucleated specimens often represents heavily pretreated, refractory disease. The introduction of aqueous humor (AH) biopsy marks a significant milestone in ocular oncology, offering in vivo, real-time tumoral genomic data that can be collected at diagnosis and repeatedly throughout treatment. This liquid biopsy has detected RB1 gene mutations and deletions and identified potential clinical biomarkers, such as amplification of the 6p chromosomal region and the MYCN gene. In addition, monitoring trends in tumor fraction provides dynamic insights into disease progression. While further research is required to validate these findings in larger populations and uncover new biomarkers, the scientific community has shown growing interest in the clinical potential of this novel approach. AH biopsy is a safe and reproducible procedure that supports precision oncology by providing tumor-specific genomic data for each patient and eye.