Retinoblastoma Treatment- Cancer/Oncology, Ophthalmology

Retinoblastoma Treatment (PDQ®)–Patient Version was originally published by the National Cancer Institute.

KEY POINTS

• Retinoblastoma is a disease in which malignant (cancer) cells form in the tissues of the retina.
• Retinoblastoma occurs in heritable and nonheritable forms.
• Treatment for both forms of retinoblastoma should include genetic counseling.
• Children with a family history of retinoblastoma should have eye exams to check for retinoblastoma.
• A child who has heritable retinoblastoma has an increased risk of trilateral retinoblastoma and other cancers.
• Signs and symptoms of retinoblastoma include "white pupil" and eye pain or redness.
• Tests that examine the retina are used to detect (find) and diagnose retinoblastoma.
• Certain factors affect prognosis (chance of recovery) and treatment options.

Retinoblastoma is a disease in which malignant (cancer) cells form in the tissues of the retina.

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.

Retinoblastoma occurs in heritable and nonheritable forms.

A child is thought to have the heritable form of retinoblastoma when one of the following is true:

• There is a family history of retinoblastoma.
• There is a certain mutation (change) in the RB1 gene. The mutation in the RB1 gene may be passed from the parent to the child or it may occur in the egg or sperm before conception or soon after conception.
• There is more than one tumor in the eye or there is a tumor in both eyes.
• There is a tumor in one eye and the child is younger than 1 year.

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.

Treatment for both forms of retinoblastoma should include genetic counseling.

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.

Children with a family history of retinoblastoma should have eye exams to check for retinoblastoma.

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 who has heritable retinoblastoma has an increased risk of trilateral retinoblastoma and other cancers.

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.

Signs and symptoms of retinoblastoma include "white pupil" and eye pain or redness.

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:

• Pupil of the eye appears white instead of red when light shines into it. This may be seen in flash photographs of the child.
• Eyes appear to be looking in different directions (lazy eye).
• Pain or redness in the eye.
• Infection around the eye.
• Eyeball is larger than normal.
• Colored part of the eye and pupil look cloudy.

Tests that examine the retina are used to detect (find) and diagnose retinoblastoma.

The following tests and procedures may be used:

• Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patient’s health habits and past illnesses and treatments will also be taken. The doctor will ask if there is a family history of retinoblastoma.
• Eye exam with dilated pupil: An exam of the eye in which the pupil is dilated (opened wider) with medicated eye drops to allow the doctor to look through the lens and pupil to the retina. The inside of the eye, including the retina and the optic nerve, is examined with a light. Depending on the age of the child, this exam may be done under anesthesia.

There are several types of eye exams that are done with the pupil dilated:

• Ophthalmoscopy : An exam of the inside of the back of the eye to check the retina and optic nerve using a small magnifying lens and a light.
• Slit-lamp biomicroscopy : An exam of the inside of the eye to check the retina, optic nerve, and other parts of the eye using a strong beam of light and a microscope.
• Fluorescein angiography : A procedure to look at blood vessels and the flow of blood inside the eye. An orange fluorescent dye called fluorescein is injected into a blood vessel in the arm and goes into the bloodstream. As the dye travels through blood vessels of the eye, a special camera takes pictures of the retina and choroid to find any blood vessels that are blocked or leaking.

• RB1 gene test: A laboratory test in which a sample of blood or tissue is tested for a change in the RB1 gene.
• Ultrasound exam of the eye: A procedure in which high-energy sound waves (ultrasound) are bounced off the internal tissues of the eye to make echoes. Eye drops are used to numb the eye and a small probe that sends and receives sound waves is placed gently on the surface of the eye. The echoes make a picture of the inside of the eye and the distance from the cornea to the retina is measured. The picture, called a sonogram, shows on the screen of the ultrasound monitor. The picture can be printed to be looked at later.
• MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body, such as the eye. This procedure is also called nuclear magnetic resonance imaging (NMRI).
• CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the eye, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography.

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.

Certain factors affect prognosis (chance of recovery) and treatment options.

The prognosis (chance of recovery) and treatment options depend on the following:

• Whether the cancer is in one or both eyes.
• The size and number of tumors.
• Whether the tumor has spread to the area around the eye, to the brain, or to other parts of the body.
• Whether there are symptoms at the time of diagnosis, for trilateral retinoblastoma.
• The age of the child.
• How likely it is that vision can be saved in one or both eyes.
• Whether a second type of cancer has formed.

Stages of Retinoblastoma

KEY POINTS

• After retinoblastoma has been diagnosed, tests are done to find out if cancer cells have spread within the eye or to other parts of the body.
• The International Retinoblastoma Staging System (IRSS) may be used for staging retinoblastoma.
  • Stage 0
  • Stage I
  • Stage II
  • Stage III
  • Stage IV
• There are three ways that cancer spreads in the body.
• Cancer may spread from where it began to other parts of the body.
• Treatment for retinoblastoma depends on whether it is intraocular (within the eye) or extraocular (outside the eye).
  • Intraocular retinoblastoma
  • Extraocular retinoblastoma (metastatic)

After retinoblastoma has been diagnosed, tests are done to find out if cancer cells have spread within the eye or to other parts of the body.

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:

• Bone scan : A procedure to check if there are rapidly dividing cells, such as cancer cells, in the bone. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material collects in the bones with cancer and is detected by a scanner that also takes a picture of the body. Areas of bone with cancer show up brighter in the picture because they take up more radioactive material than normal bone cells do.

• Bone marrow aspiration and biopsy : The removal of bone marrow and a small piece of bone by inserting a hollow needle into the hipbone or breastbone. A pathologist views the bone marrow under a microscopeto look for signs of cancer. A bone marrow aspiration and biopsy is done if the doctor thinks the cancer has spread outside of the eye.
• Lumbar puncture : A procedure used to collect cerebrospinal fluid (CSF) from the spinal column. This is done by placing a needle between two bones in the spine and into the CSF around the spinal cord and removing a sample of the fluid. The sample of CSF is checked under a microscope for signs that the cancer has spread to the brain and spinal cord. This procedure is also called an LP or spinal tap.

The International Retinoblastoma Staging System (IRSS) may be used for staging retinoblastoma.

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.

Stage 0

The tumor is in the eye only. The eye has not been removed and the tumor was treated without surgery.

Stage I

The tumor is in the eye only. The eye has been removed and no cancer cells remain.

Stage II

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

Stage III is divided into stages IIIa and IIIb:

• In stage IIIa, cancer has spread from the eye to tissues around the eye socket.
• In stage IIIb, cancer has spread from the eye to lymph nodes near the ear or in the neck.

Stage IV

Stage IV is divided into stages IVa and IVb:

• In stage IVa, cancer has spread to the blood but not to the brain or spinal cord. One or more tumors may have spread to other parts of the body such as the bone or liver.
• In stage IVb, cancer has spread to the brain or spinal cord. It also may have spread to other parts of the body.

There are three ways that cancer spreads in the body.

Cancer can spread through tissue, the lymph system, and the blood:

• Tissue. The cancer spreads from where it began by growing into nearby areas.
• Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body.
• Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body.

Cancer may spread from where it began to other parts of the body.

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.

• Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body.
• Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body.

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.

Treatment for retinoblastoma depends on whether it is intraocular (within the eye) or extraocular (outside the eye).

Intraocular retinoblastoma

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.

Extraocular retinoblastoma (metastatic)

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 and Recurrent Retinoblastoma

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.

To read about Retinoblastoma as one of the treatment options for cancer, please click here.

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