Implications of a germline pathogenic variant in the RB1 gene

Implications of a germline pathogenic variant in the RB1 gene

Cancer treatment	Early detection Optimize long-term survival (before eye/vision) Avoid radiation therapy if possible Lifelong follow-up Specialist management for extraocular tumors
Surveillance	Ophthalmologic examinations from birth^* MRI screening for pineoblastoma^¶ Regular examinations, including full skin examination Low threshold to evaluate symptoms or findings that suggest cancer (unexplained pain or swelling)
Risk reduction	Healthy diet rich in vegetables Avoid radiation exposure (diagnostic imaging, ultraviolet light) Avoid DNA-damaging agents (cigarette smoke, alcohol)
Genetic counseling and testing	At-risk first-degree relatives should be tested Preconception counseling with discussion of reproductive options Evaluation as soon as possible after birth for children at risk for retinoblastoma

Care should be provided by a multidisciplinary team, with follow-up in a cancer survivorship clinic. Refer to UpToDate for additional information.

DNA: deoxyribonucleic acid; MRI: magnetic resonance imaging.

* Refer to UpToDate for intervals and need for examination under anesthesia.

¶ The age at which to initiate MRI screening varies by center. Typically this is done as soon as an RB1 pathogenic variant is identified and may be before three months of age.

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Implications of a germline pathogenic variant in the RB1 gene