WHEN IS RETINOBLASTOMA INHERITED?
Retinoblastoma is often referred to as hereditary (inherited) or non-hereditary. This refers to the way your child developed the two RB1 gene mutations, and it impacts how your child presents with retinoblastoma, how they may be treated, and what type of follow-up they may need after treatment. Retinoblastoma is hereditary (inherited) when a child is born with a mutation in the RB1 gene. The mutation can be inherited from a parent, but most of the time it is a spontaneous, or new, mutation. Children with hereditary retinoblastoma typically have more than one tumor in the eye, have tumors in both eyes, and are of a younger age at diagnosis. If a child has the hereditary form of retinoblastoma, they can pass the RB1 gene mutation on to their future children. Retinoblastoma is non-hereditary when the mutation in the RB1 gene occurs after the child is born. The mutation only affects the cells in the eye, and cannot be passed on to children. Children with non-hereditary retinoblastoma typically have retinoblastoma in only one eye. Genetic testing (usually by taking a blood sample) is the only way to know for sure whether your child’s retinoblastoma is inheritable. Ask your healthcare team about genetic testing and a referral to a genetic counselor for your child, and possibly for yourselves and your other children. Genetic counselors investigate the health problems in the family, interpret information about the disorder, analyze inheritance patterns and risks of recurrence and review available options with the family. Genetic counselors also provide supportive counseling to families, serve as patient advocates, and refer individuals and families to community or state support services when appropriate.
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Association of Pediatric Hematology/Oncology Nurses (APHON)
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