Genetic bases of retinoblastoma from liquid biopsies: towards a personalized treatment of pediatric patients

At the Institute of Molecular and Clinical Ophthalmology Basel (IOB), interdisciplinary teams of basic researchers and clinicians work hand in hand to improve the understanding of vision and to improve clinical applications for the benefit of patients with blinding conditions.

Retinoblastoma (RB) is an aggressive cancer of the infant eye that originates in the retina and is initiated by genetic alterations in the RB1 gene. Until today retinoblastoma patients never benefited from the predictive and prognostic value of contemporary genetic biomarkers. This is related to the fact that retinoblastoma cannot be biopsied because of a significant risk of dissemination of tumor cells to the rest of the body – with potential deadly consequences for the patient.

Recently, it has been shown that a surrogate biopsy, termed ‘liquid biopsy’, can be obtained in patients with various cancers, conferring the assets of a biopsy while being safe and minimally invasive. This finding opens the way to identification of prognostic biomarkers, tracking of drug resistance, and detection of minimal residual disease, possibly also in retinoblastoma cases. Should this approach be achieved, it will enable a personalized therapeutic management to each child and in the end their quality of life.