Update on Retinoblastoma Predisposition and Surveillance Recommendations for Children.

Abstract

Hereditary retinoblastoma is a classic cancer predisposition syndrome with risks beginning in early infancy. About 45% of children with retinoblastoma (RB) have hereditary disease. These children are at risk for both intraocular disease as well as additional neoplasms throughout their lifetime. Germline pathogenic variants (GPVs) in RB1 typically lead to bilateral intraocular disease, elevated risks of trilateral RB, and risks of subsequent malignant neoplasms (non-ocular tumors), especially sarcomas and melanomas. There is further increased risk of subsequent malignant neoplasms if radiation treatment is used. Herein, with a reconvening of the AACR Childhood Cancer Predisposition Workshop, we expand on strategies for identifying individuals with hereditary RB, with a focus on testing strategies for children with RB. We also provide updates from previous recommendations. Given the high penetrance of retinal tumors, we review the importance of close intraocular surveillance and consider recent data regarding surveillance for subsequent malignant neoplasms. Finally, we discuss the importance of counseling for survivors of intraocular disease to address risks of adult-onset tumors as well as to consider reproductive risks.