Pediatric Cancers - Retinoblastoma

What is retinoblastoma?

Retinoblastoma is a rare cancer of the retina (the innermost layer of the eye, located at the back of the eye, that receives light and images necessary for vision). About 300 children will be diagnosed with retinoblastoma this year. It accounts for 3 percent of childhood cancers. Nearly all children with retinoblastoma can be cured of the disease if it has been diagnosed early enough, and 90 percent will have normal vision in at least one eye after treatment.

Anatomy of the eye, internal
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What causes retinoblastoma?

Retinoblastoma occurs due to mutations in a tumor suppressor gene (called RB1) located on chromosome #13. Two mutations (or gene changes) are necessary to "knock-out" this gene, and cause uncontrolled cell growth. In inherited retinoblastoma (40 percent of the cases), the first mutation is inherited from a parent, while the second occurs during the development of the retina. In sporadic retinoblastoma (60 percent of the cases), both mutations occur during development of the retina. Sporadic means "occurs by chance." Alterations in the RB1 gene have also been found in other tumors, including osteosarcoma and breast cancer.

Most children with inherited retinoblastoma have tumors involving both eyes. Consider the following statistics:

Any individual with a positive family history of retinoblastoma may want to seek genetic counseling to identify the specific risks of passing the gene or disease to their children.

What are the symptoms of retinoblastoma?

The following are the most common symptoms of retinoblastoma. However, each child may experience symptoms differently. Symptoms may include:

Often the symptoms may not appear if the disease is diagnosed early. The symptoms of retinoblastoma may resemble other conditions or medical problems. Always consult your child's physician for a diagnosis.

How is retinoblastoma diagnosed?

In addition to a complete medical and physical examination, diagnostic procedures for retinoblastoma may include:

A diagnosis may be made before symptoms are present. If a family history is positive for retinoblastoma, frequent eye examinations may be necessary at many stages of the child's development to determine the presence of any tumor. When retinoblastoma is diagnosed, tests will be performed to determine the size,of the tumors, and if the tumors have spread to the other parts of the body. This is called staging and is an important step toward planning a treatment program.

What are the stages of retinoblastoma?

There are various staging systems that can be used for retinoblastoma. Always consult your child's physician for more information on staging.

The newest staging method is called The International Classification for Intraocular Retinoblastoma, which groups tumors into five categories - groups A through E - based on the likelihood of saving the eye.

The more traditional method of staging is the Reese-Ellsworth stages of retinoblastoma (this staging system is only for tumors that have not spread beyond the eye):

*The "equator" is an imaginary line that divides the eye into two equal parts: a front half and a back half.

Treatment for retinoblastoma

Specific treatment for retinoblastoma will be determined by your child's physician based on:

The primary goal of treatment is to remove the tumor and prevent metastasis (spreading) of the cancer to other parts of the body.

Treatment may include one or more of the following:

Long-term outlook for a child with retinoblastoma

Prognosis greatly depends on the following:

As with any cancer, prognosis and long-term survival can vary greatly from child to child. Every child is unique and treatment and prognosis is structured around the child's needs. Prompt medical attention and aggressive therapy are important for the best prognosis.

Continuous follow-up care is essential for a child diagnosed with retinoblastoma. In hereditary retinoblastoma, new tumors may form in either eye until the child is 3-4 years old. Children will need very close follow-up by an opthamologist. Children with hereditary retinoblastoma and those treated with some chemotherapies, radiation therapies, and some other therapies are at higher risk for new cancers later in life and should have regular medical and eye exams.

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