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Update on Retinoblastoma Predisposition and Surveillance Recommendations for Children
Junne Kamihara1, Jaclyn Schienda1, Rose B McGee2
1Department of Pediatric Oncology, Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, Massachusetts.
Summary
Hereditary retinoblastoma (RB) affects 45% of children diagnosed with RB, increasing lifetime risks for intraocular and subsequent malignant neoplasms (SMN). This report updates strategies for identifying hereditary RB and managing surveillance for both ocular and non-ocular tumors.
Area of Science:
- Oncology
- Genetics
- Ophthalmology
Background:
- Hereditary retinoblastoma (RB) is a cancer predisposition syndrome with early onset.
- Germline RB1 variants cause bilateral intraocular disease, trilateral RB, and increased risk of subsequent malignant neoplasms (SMN), particularly sarcomas and melanomas.
- Radiation therapy can further elevate SMN risk.
Purpose of the Study:
- To update strategies for identifying individuals with hereditary RB, focusing on testing for children with RB.
- To review current recommendations for intraocular surveillance and SMN surveillance.
- To discuss genetic counseling for RB survivors regarding adult-onset tumors and reproductive risks.
Main Methods:
- Reconvening of the American Association for Cancer Research (AACR) Childhood Cancer Predisposition Workshop.
- Review of existing literature and data on RB surveillance and genetic testing.
- Expert consensus on updated recommendations.
Main Results:
- Focus on improved testing strategies for early identification of hereditary RB.
- Emphasis on rigorous intraocular surveillance due to high tumor penetrance.
- Consideration of updated data for SMN surveillance, especially post-radiation.
Conclusions:
- Early identification and comprehensive surveillance are crucial for managing hereditary RB and its associated risks.
- Genetic counseling is vital for addressing long-term health and reproductive concerns in RB survivors.
- Updated guidelines aim to optimize patient outcomes and reduce cancer predisposition risks.
