Retinoblastoma

BACKGROUND: Retinoblastoma is the most common intraocular malignancy of infants and children. With early diagnosis and treatment, survival is greater than 90%; however, patients with a germline retinoblastoma mutation have a substantial risk of having a second high-grade malignancy. METHODS: The recent developments in the diagnosis and treatment of retinoblastoma are reviewed. RESULTS: Identification of the retinoblastoma germline mutation is now possible with the discovery of the retinoblastoma gene. Patients with the germline mutation have a 51% cumulative risk over 50 years of developing a second malignancy. Several pilot studies using primary chemotherapy for retinoblastoma have shown promising results. CONCLUSIONS: Risk assessment and genetic counseling have become more precise with the development of laboratory methods to identify the retinoblastoma gene. The development of primary chemotherapy regimens to reduce the size of retinoblastoma tumors may decrease the need for radiation therapy and thereby reduce the risk of radiation-related malignancies in patients with the germline mutation.