Retinoblastoma Survivors Follow-up Study

Overview

DCEG researchers are studying survivors of retinoblastoma (Rb), a cancer that forms in the tissues of the retina (the light-sensitive layers of nerve tissue at the back of the eye). Rb usually occurs in children younger than five years and may be hereditary or nonhereditary (sporadic). Sporadic Rb affects just one eye whereas hereditary typically Rb affects both eyes. For the past 30 years, investigators in DCEG have been studying Rb survivors to determine the long-term health effects for these individuals who were treated in childhood. Fortunately, treatment has a very high success rate and many survivors enjoy long productive lives, although some survivors may experience increased risks for developing new cancers.

By 50 years after diagnosis with hereditary retinoblastoma, 33% of survivors develop a second cancer; 6% of survivors develop a third cancer.

Subsequent Cancer Risk in Retinoblastoma Survivors

Dr. Schonfeld and colleagues find retinoblastoma survivors have increased risk of certain subsequent epithelial cancers.

Study Team

Lindsay Morton, Ph.D., Senior investigator and Branch Director, Radiation Epidemiology Branch (REB)

Sara Schonfeld, Ph.D., staff scientist, REB

Collaborators

Cancer Survivorship Research Unit (CSRU)

Background

Improvements in treatment over the past century have greatly increased survival for retinoblastoma, a rare pediatric ocular tumor caused by germline and/or somatic mutations in the RB1 tumor suppressor gene. However, survivors of retinoblastoma, particularly those with the hereditary form of the disease (germline RB1 mutations), have elevated risks of developing additional malignancies, a major cause of morbidity and mortality. Radiotherapy appears to increase this risk.

About the Study

Since the mid-1980s, the Radiation Epidemiology Branch (REB) of the NCI has followed a cohort of 2,136 individuals who were diagnosed with retinoblastoma between 1914-2007 at two hospital centers (Boston and New York City). The aim of the study is to investigate risk for subsequent primary cancers and mortality. Additionally, analysis of variation in the RB1 gene is planned to identify specific mutations that may be related to the risk of a second cancer.

See all DCEG research on childhood cancers

Where can I find more information?

National Cancer Institute Information on Retinoblastoma

Additional web sites:

Patterns of Cause-Specific Mortality in Survivors of Retinoblastoma, 1914-2016

Mortality risks strongly elevated up to six decades after treatment among 2053 retinoblastoma survivors.

Study Results & Select Publications

Results from this study have consistently reported that hereditary retinoblastoma survivors have a greater risk of subsequent malignancies compared with both the general population and with non-hereditary survivors. The elevated risks persist into adulthood. Additional findings from this study:

Increased risks for benign tumors among hereditary survivors compared with nonhereditary survivors.
Risk of bone and soft tissue sarcomas in hereditary retinoblastoma survivors treated with radiation varies by sarcoma type, age, location, and sex.
Mortality patterns among adult survivors of retinoblastoma differ by hereditary status, cause of death, calendar year of diagnosis, treatment, and time since diagnosis

Data from this study provided valuable evidence that helped to inform recommendations for long-term clinical follow-up of adult survivors of hereditary retinoblastoma.

Search DCEG's scientific publications on retinoblastoma .

Data Sharing

Researchers interested in establishing a collaboration with the study team to obtain de-identified data should contact Dr. Lindsay Morton. Researchers will be asked to develop a study proposal in collaboration with the NCI study team.

Fellowship Opportunities

Postdoctoral fellows with training in epidemiology, biostatistics, genetics, and/or medicine who are interested in working on this study should contact Dr. Morton.