Retinoblastoma: from bench to bedside

Expert Rev Mol Med. 2003 Jan 7;5(1):1-14. doi: 10.1017/S1462399403005520.

Abstract

Retinoblastoma (Rb) is the most common primary ocular malignancy of children and is caused by a mutation in the gene RB1. Approximately 40% of cases are associated with one or more constitutional mutations, and are therefore heritable, whereas the other 60% are sporadic. Rb is exclusively found in young children. In some cases, Rb tumours metastasise to extraocular organs including bone, lung and brain. Although there is no effective treatment for metastatic disease, non-metastatic cases can be cured by removal of the eye(enucleation). Newer treatment strategies emphasise salvaging the affected eye whenever possible. Animal models of Rb have been developed with xenograft and transgenic techniques. Each model has both strengths and weaknesses for exploring the mechanisms of disease development and progression and the efficacy of new treatment strategies.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Child
  • Disease Models, Animal
  • Eye / pathology
  • Eye / transplantation
  • Eye Enucleation
  • Humans
  • Organ Transplantation / methods
  • Retinoblastoma / diagnosis
  • Retinoblastoma / epidemiology
  • Retinoblastoma / therapy*