Applications of Molecular Biology and Biomedical Advances in Ocular Oncology

Retinoblastoma, one of the first cancers for which a genetic basis has been explained, has been the prototype of genetic cancers. In addition to the RB1 gene mutation, alterations in the myc-N gene, miRNAs, the applications of liquid biopsy, discovery of alternative pathways, and tumorigenesis have all seen several advances in light of biomedical technique advances. This has changed how we approach the patient, the management, follow-up, and long-term implications of the disease. It has also generated room for newer targeted therapies and viral vector-assisted gene therapy. Uveal melanoma genetics have implicated genes such as GNAQ (G protein subunit alpha q), GNA11 (G protein subunit alpha), SF3B1 (splicing factor 3B subunit 1), and CYSLTR2 (cysteinyl leukotriene receptor 2), among others. The identification of these genes helps in prognostication and risk stratification and also gives way to newer targeted therapies. Identification of myeloid differentiation primary response gene 88 (MyD88) and CD79B mutations in primary vitreoretinal lymphoma helps in diagnosis of disease and prognostication. This chapter aims to discuss in further detail the biomedical advances in ophthalmic cancers.