General Information(Symptoms and DIagnosis)
Stages of Retinoblastoma
Treatment Options
Retinoblastoma is a rare childhood cancer in which malignant (cancer) cells form in the tissues of the retina. The retina is a thin layer of nerve tissue that lines the inside of the back of the eye and is sensitive to light. The retina senses light and sends a message by way of the optic nerve to the brain, in order for you to see.
Retinoblastoma can occur in one or both eyes and sometimes occurs in the area around the eye. It rarely spreads to other parts of the body. Treatment depends on whether the cancer is in one or both eyes or has spread outside the eye and how likely it is that vision can be saved.
About 200 to 300 children are diagnosed with retinoblastoma each year in the U.S. Although retinoblastoma can occur at any age, it usually occurs in children younger than 5 years. Most children with retinoblastoma are younger than 2 years old when the cancer is diagnosed.
The retina is the nerve tissue that lines the inside of the back of the eye. The retina senses light and sends images to the brain by way of the optic nerve.
Although retinoblastoma may occur at any age, it occurs most often in children younger than 2 years. The cancer may be in one eye (unilateral) or in both eyes (bilateral). Retinoblastoma rarely spreads from the eye to nearby tissue or other parts of the body.
Cavitary retinoblastoma is a rare type of retinoblastoma in which cavities (hollow spaces) form within the tumor.
A child is thought to have the heritable form of retinoblastoma when one of the following is true:
After heritable retinoblastoma has been diagnosed and treated, new tumors may continue to form for a few years. Regular eye exams to check for new tumors are usually done every 2 to 4 months for at least 28 months.
Nonheritable retinoblastoma is retinoblastoma that is not the heritable form. Most cases of retinoblastoma are the nonheritable form.
Parents should receive genetic counseling (a discussion with a trained professional about the risk of genetic diseases) to discuss genetic testing to check for a mutation (change) in the RB1 gene. Genetic counseling also includes a discussion of the risk of retinoblastoma for the child and the child's brothers or sisters.
A child with a family history of retinoblastoma should have regular eye exams beginning early in life to check for retinoblastoma, unless it is known that the child does not have the RB1 gene change. Early diagnosis of retinoblastoma may mean the child will need less intense treatment.
Brothers or sisters of a child with retinoblastoma should have regular eye exams by an ophthalmologist until age 3 to 5 years, unless it is known that the brother or sister does not have the RB1 gene change.
A child with heritable retinoblastoma has an increased risk of a pineal tumor in the brain. When retinoblastoma and a brain tumor occur at the same time, it is called trilateral retinoblastoma. The brain tumor is usually diagnosed between 20 and 36 months of age. Regular screening using MRI (magnetic resonance imaging) may be done for a child thought to have heritable retinoblastoma or for a child with retinoblastoma in one eye and a family history of the disease. CT (computerized tomography) scans are usually not used for routine screening in order to avoid exposing the child to ionizing radiation.
Heritable retinoblastoma also increases the child's risk of other types of cancer such as lung cancer, bladder cancer, or melanoma in later years. Regular follow-up exams are important.
These and other signs and symptoms may be caused by retinoblastoma or by other conditions. Check with a doctor if your child has any of the following:
The following tests and procedures may be used:
There are several types of eye exams that are done with the pupil dilated:
Retinoblastoma can usually be diagnosed without a biopsy.
When retinoblastoma is in one eye, it sometimes forms in the other eye. Exams of the unaffected eye are done until it is known if the retinoblastoma is the heritable form.
The prognosis (chance of recovery) and treatment options depend on the following:
The process used to find out if cancer has spread within the eye or to other parts of the body is called staging. The information gathered from the staging process determines whether retinoblastoma is only in the eye (intraocular) or has spread outside the eye (extraocular). It is important to know the stage in order to plan treatment. The results of the tests used to diagnose cancer are often also used to stage the disease. (See the General Information section.)
The following tests and procedures may be used in the staging process:
There are several staging systems for retinoblastoma. The IRSS stages are based on how much cancer remains after surgery to remove the tumor and whether the cancer has spread.
The tumor is in the eye only. The eye has not been removed and the tumor was treated without surgery.
The tumor is in the eye only. The eye has been removed and no cancer cells remain.
The tumor is in the eye only. The eye has been removed and there are cancer cells left that can be seen only with a microscope.
Stage III is divided into stages IIIa and IIIb:
Stage IV is divided into stages IVa and IVb:
Cancer can spread through tissue, the lymph system, and the blood:
When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood.
The metastatic tumor is the same type of cancer as the primary tumor. For example, if retinoblastoma spreads to the bone, the cancer cells in the bone are actually retinoblastoma cells. The disease is metastatic retinoblastoma, not bone cancer.
In intraocular retinoblastoma, cancer is found in one or both eyes and may be in the retina only or may also be in other parts of the eye such as the choroid, ciliary body, or part of the optic nerve. Cancer has not spread to tissues around the outside of the eye or to other parts of the body.
In extraocular retinoblastoma, cancer has spread beyond the eye. It may be found in tissues around the eye (orbital retinoblastoma) or it may have spread to the central nervous system (brain and spinal cord) or to other parts of the body such as the liver, bones, bone marrow, or lymph nodes.
Progressive retinoblastoma is retinoblastoma that does not respond to treatment. Instead, the cancer grows, spreads, or gets worse.
Recurrent retinoblastoma is cancer that has recurred (come back) after it has been treated. The cancer may recur in the eye, in tissues around the eye, or in other places in the body.
Different types of treatment are available for patients with retinoblastoma. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment.
Because cancer in children is rare, taking part in a clinical trial should be considered. Some clinical trials are open only to patients who have not started treatment.
The goals of treatment are to save the child's life, to save vision and the eye, and to prevent serious side effects. Treatment will be overseen by a pediatric oncologist, a doctor who specializes in treating children with cancer. The pediatric oncologist works with other health care providers who are experts in treating children with eye cancer and who specialize in certain areas of medicine. These may include a pediatric ophthalmologist (children's eye doctor) who has a lot of experience in treating retinoblastoma and the following specialists:
Side effects from cancer treatment that begin during or after treatment and continue for months or years are called late effects. Late effects of treatment for retinoblastoma may include the following:
The following risk factors may increase the risk of having another cancer:
It is important to talk with your child's doctors about the effects cancer treatment can have on your child. Regular follow-up by health professionals who are experts in diagnosing and treating late effects is important. See the PDQ summary on Late Effects of Treatment for Childhood Cancer for more information.
Cryotherapy is a treatment that uses an instrument to freeze and destroy abnormal tissue. This type of treatment is also called cryosurgery.
Thermotherapy is the use of heat to destroy cancer cells. Thermotherapy may be given using a laser beam aimed through the dilated pupil or onto the outside of the eyeball. Thermotherapy may be used alone for small tumors or combined with chemotherapy for larger tumors. This treatment is a type of laser therapy.
Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. The way the chemotherapy is given depends on the stage of the cancer and where the cancer is in the body.
There are different types of chemotherapy:
Systemic chemotherapy may also be given to kill any cancer cells that are left after the initial treatment or to patients with retinoblastoma that occurs outside the eye. Treatment given after the initial treatment, to lower the risk that the cancer will come back, is called adjuvant therapy.
See Drugs Approved for Retinoblastoma for more information.
Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy:
The way the radiation therapy is given depends on the type and stage of the cancer being treated and how the cancer responded to other treatments. External and internal radiation therapy are used to treat retinoblastoma.
High-dose chemotherapy with stem cell rescue is a way of giving high doses of chemotherapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells.
See Drugs Approved for Retinoblastoma for more information.
Enucleation is surgery to remove the eye and part of the optic nerve. A sample of the eye tissue that is removed will be checked under a microscope to see if there are any signs that the cancer is likely to spread to other parts of the body. This should be done by an experienced pathologist, who is familiar with retinoblastoma and other diseases of the eye. Enucleation is done if there is little or no chance that vision can be saved and when the tumor is large, did not respond to treatment, or comes back after treatment. The patient will be fitted for an artificial eye.
Close follow-up is needed for 2 years or more to check for signs of recurrence in the area around the affected eye and to check the other eye.
Information about clinical trials is available from the NCI website.
For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment.
Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment.
Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.
Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment.
Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.
Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests.
Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your child's condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups.
If it is likely that the eye can be saved, treatment may include the following:
If the tumor is large and it is not likely that the eye can be saved, treatment may include the following:
When retinoblastoma is in both eyes, the treatment for each eye may be different, depending on the size of the tumor and whether it is likely that the eye can be saved. The dose of systemic chemotherapy is usually based on the eye that has more cancer.
Treatment for cavitary retinoblastoma, a type of intraocular retinoblastoma, may include the following:
Check the list of NCI-supported cancer clinical trials that are now accepting patients with intraocular retinoblastoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website.
Treatment for extraocular retinoblastoma that has spread to the area around the eye may include the following:
Treatment for extraocular retinoblastoma that has spread to the brain may include the following:
It is not clear whether treatment with chemotherapy, radiation therapy, or high-dose chemotherapy with stem cell rescue helps patients with extraocular retinoblastoma live longer.
For trilateral retinoblastoma, treatment may include the following:
For retinoblastoma that has spread to other parts of the body, but not the brain, treatment may include the following:
Check the list of NCI-supported cancer clinical trials that are now accepting patients with extraocular retinoblastoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website.
Treatment of progressive or recurrent intraocular retinoblastoma may include the following:
Treatment of progressive or recurrent extraocular retinoblastoma may include the following:
-NIH
