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Genetic Counseling

Important life-threatening concerns for children with bilateral or hereditary retinoblastoma

This can occur, usually within one year from diagnosis, and primarily depends on the pathology findings. Fortunately, only 2% of patients develop metastasis. If the tumor invades into the optic nerve or choroid then chemotherapy is advised to prevent metastasis.

This is a brain cancer that can occur in 8% to 10% of children with bilateral or familial retinoblastoma. MRI or CT of the brain is important to monitor for this tumor, especially up to age 5 years as most pinealoblastomas occur before this age.

Second cancers
Children with bilateral or familial retinoblastoma have an increased risk for second cancers elsewhere in the body such as in the bone, soft tissue and skin. Lifelong monitoring for second cancers is advised.

There are several important aspects of the genetics of retinoblastoma. Retinoblastoma is classified into hereditary or nonhereditary types. Hereditary retinoblastoma patients are at increased risk for pinealoblastoma, second cancers and transmission of the genetic trait to their children.

Hereditary retinoblastoma includes:
100% of children with bilateral retinoblastoma

100% of children with familial retinoblastoma

10% of children with unilateral retinoblastoma

Nonhereditary retinoblastoma includes:
90% of children with unilateral retinoblastoma

The chance of having another child with retinoblastoma depends on two factors:

1. If the affected child has the tumor in one or both eyes and

2. If there is another family member with retinoblastoma.

The following tables will give you an idea of the chances of your having another child with retinoblastoma depending on these factors. Generally, if there is another family member with retinoblastoma, the parents have a higher chance of carrying the gene (trait) to pass on to future babies. If there is no family history of retinoblastoma and the child has the tumor in only one eye, then the chances of passing on the trait to future generations is much less.

Copyright 2005 Ocular Oncology Service. All rights reserved.

Ocular Oncology Service
Wills Eye Institute
840 Walnut Street – Suite 1440
Philadelphia, Pennsylvania 19107

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Copyright 2005, Ocular Oncology Service, Wills Eye Institute. All rights reserved.
Site developed by D.Woolwine & Co.