Tumor Suppressor Genes in Ophthalmology☆☆☆

Abstract 

Tumor suppressor genes have a diversity of functions, but they have in common the property of inhibiting neoplastic transformation. When they become inactivated, a constraint is removed that allows cells to grow inappropriately. Mutations in these genes are now thought to be the initiating events in most cancers. The first tumor suppressor gene was discovered through its role in retinoblastoma, and many other tumor suppressor genes also have important ophthalmic manifestations. The first group of tumor suppressor genes to be discussed are those involved in retinoblastoma and uveal melanoma. These are among the most frequently mutated genes in human cancer and are key regulators of growth and homeostasis. The second group of genes is associated with specific hereditary tumor syndromes with ophthalmic manifestations. These genes function in a variety of molecular pathways and are associated with neoplastic and non-neoplastic abnormalities in restricted tissue distributions. Research on tumor suppressor genes continues to shed light on the molecular pathophysiology of ophthalmic tumors and will increasingly yield diagnostic and therapeutic applications.

Keywords:  adenomatous polyposis coli, von Hippel-Lindau syndrome, neurofibromatosis, retinoblastoma, tuberous sclerosis, tumor suppressor genes, uveal melanoma