Email updates

Keep up to date with the latest news and content from Clinical Sarcoma Research and BioMed Central.

Open Access Highly Accessed Review

Sarcomas in hereditary retinoblastoma

Ruth A Kleinerman1*, Sara J Schonfeld1 and Margaret A Tucker12

Author Affiliations

1 Epidemiology and Biostatistics Program Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, 6120 Executive Boulevard, Rockville, MD 20852, USA

2 Human Genetics Program, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, 6120 Executive Boulevard, Rockville, MD 20852, USA

For all author emails, please log on.

Clinical Sarcoma Research 2012, 2:15  doi:10.1186/2045-3329-2-15

Published: 4 October 2012

Abstract

Children diagnosed with the hereditary form of retinoblastoma (Rb), a rare eye cancer caused by a germline mutation in the RB1 tumor suppressor gene, have excellent survival, but face an increased risk of bone and soft tissue sarcomas. This predisposition to sarcomas has been attributed to genetic susceptibility due to inactivation of the RB1 gene as well as past radiotherapy for Rb. The majority of bone and soft tissue sarcomas among hereditary Rb survivors occur in the head, within the radiation field, but they also occur outside the radiation field. Sarcomas account for almost half of the second primary cancers in hereditary Rb survivors, but they are very rare following non-hereditary Rb. Sarcomas among hereditary Rb survivors arise at ages similar to the pattern of occurrence in the general population. There has been a trend over the past two decades to replace radiotherapy with chemotherapy and other focal therapies (laser or cryosurgery), and most recently, chemosurgery in order to reduce the incidence of sarcomas and other second cancers in Rb survivors. Given the excellent survival of most Rb patients treated in the past, it is important for survivors, their families and health care providers to be aware of the heightened risk for sarcomas in hereditary patients.

Keywords:
Retinoblastoma; Soft tissue sarcoma; Bone sarcoma; Radiotherapy; Epidemiology; RB1 gene; Hereditary