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Genomics: Past, Present, and Future

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Global Perspectives in Ocular Oncology

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Abstract

Retinoblastoma is the prototypic genetic cancer, revealing much about the fundamentals of cancer genomics over the past 50 years. The majority of retinoblastoma tumors are initiated by biallelic loss (M1 and M2) of the retinoblastoma tumor suppressor gene, with progression driven by subsequent recurrent genomic changes (M3 to Mn). Knowledge of retinoblastoma genetics has transformed all aspects of clinical care. High-sensitivity molecular RB1 testing and counseling stratify both ocular and second cancer risks for the proband and family members. Prenatal diagnosis of familial retinoblastoma enables early detection of tumors and improves outcomes. Aqueous humor is a promising “liquid biopsy” with potential diagnostic and prognostic applications. Current advances in retinoblastoma genomics will pave the way toward individualized, precision medicine in which early intervention follows subclinical detection. Outcomes for children and families will be optimized through collaborative, multicenter, prospective clinical trials, targeted molecular therapies, and genotypic prognostication.

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  1. Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada

    Stephanie N. Kletke & Brenda L. Gallie

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    Bhavna V. Chawla

  2. Retina Service Massachusetts Eye and Ear Harvard Medical School, Boston, MA, USA

    Mary E. Aronow

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Kletke, S.N., Gallie, B.L. (2022). Genomics: Past, Present, and Future. In: Chawla, B.V., Aronow, M.E. (eds) Global Perspectives in Ocular Oncology. Springer, Cham. https://doi.org/10.1007/978-3-031-08250-4_20

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