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Retinoblastoma is a malignant (cancerous)
tumor of the retina. The retina is the thin nerve tissue that lines the
back of the eye that senses light and forms images.
Although retinoblastoma may occur at any age,
it most often occurs in younger children, usually before the age of 5 years.
The tumor may be in one eye only or in both eyes. Retinoblastoma is usually
confined to the eye and does not spread to nearby tissue or other parts
of the body. Your child’s prognosis (chance of recovery and retaining sight)
and choice of treatment depend on the extent of the disease within and
beyond the eye.
This disease is caused by mutations in a gene
called the Retinoblastoma-1 (RB1) gene. These mutations are either inherited (passed from the parents to the children)
or new (not passed from the parents to the children) mutations. Some new
mutations may become "inherited" (the new mutation is passed from the parents to the children). Tumors caused
by inherited mutations are called hereditary retinoblastomas. Tumors caused
by new mutations are called sporadic retinoblastomas. Hereditary retinoblastomas
may form in one or both eyes, and they are generally found in younger children.
Most retinoblastomas that form in only one eye are not hereditary, and
they are found more often in older children. When tumors form in both eyes,
the disease is almost always hereditary. Because of the hereditary factor,
patients and their brothers and sisters should have periodic examinations,
including genetic counseling, to determine their risk for developing the
A child who has hereditary retinoblastoma
may also be at risk of developing a tumor in the brain while they are being
treated for the eye tumor. This is called trilateral retinoblastoma, and
patients should be periodically monitored by the doctor for the possible
development of this rare condition during and after treatment. If your
child has retinoblastoma, particularly the hereditary type, there is also
an increased chance that he or she may develop other types of cancer in
later years. Parents may therefore decide to continue taking their child
for medical check-ups even after the cancer has been treated.
Once retinoblastoma is found, more tests will
be done to determine the size of the tumor and whether it has spread to
surrounding tissue or to other parts of the body. This is called staging.
To plan treatment, your child’s doctor needs
to know the stage of disease. Although there are several staging systems
currently available for retinoblastoma, for the purposes of treatment retinoblastoma
is categorized into intraocular and extraocular disease.
Cancer is found in one or both eyes, but
does not extend beyond the eye into the tissues around the eye or to other
parts of the body.
The cancer has extended beyond the eye.
It may be confined to the tissues around the eye, or it may have spread
to other parts of the body.
Recurrent disease means that the cancer
has come back (recurred) or progressed (continued to grow) after it has
been treated. It may recur in the eye, the tissues around the eye, or elsewhere
in the body.
There are treatments for all children with
retinoblastoma, and most children can be cured. The type of treatment given
depends on the extent of the disease within the eye, whether the disease
is in one or both eyes, and whether the disease has spread beyond the eye.
Treatment options that attempt to cure the patient and preserve vision,
include the following:
- Enucleation: Surgery
to remove the eye.
- Radiation therapy: Radiation therapy uses high-energy radiation from x-rays and other sources to
kill cancer cells and shrink tumors. Radiation may come from a machine
outside the body (external-beam radiation therapy) or may be administered
by placing radioactive material into or very near the tumor (internal
radiation therapy or brachytherapy).
- Cryotherapy: The use of extreme cold to destroy cancer cells.
- Photocoagulation: The use of laser light to destroy blood vessels that supply nutrients to the
- Thermotherapy: The use of heat to destroy cancer cells.
- Chemotherapy: The use of drugs to kill cancer cells. Chemotherapy is called a systemic treatment
because the drug enters the bloodstream, travels through the body, and
can kill cancer cells throughout the body. In children with retinoblastoma,
chemotherapy is under investigation.
Your child may receive treatment that is
considered standard based on its effectiveness in a number of patients
in past studies, or you may choose to have your child take part in a clinical
trial. Not all patients are cured with standard therapy and some standard
treatments may have more side effects than are desired. For these reasons,
clinical trials are designed to test new treatments and find better ways
to treat children with cancer.
Treatment depends on whether the cancer
is in one or both eyes.
If the cancer is in one eye, treatment may
be one of the following:
- Surgery to remove the
eye (enucleation) is used for large tumors when there is no expectation
that useful vision can be preserved.
- External radiation therapy, photocoagulation, cryotherapy, thermotherapy, or
brachytherapy may be used with smaller tumors when there is potential
for preservation of sight.
If the cancer is in both eyes, treatment
may be one of the following:
- Surgery to remove the
eye with the most cancer, and/or radiation therapy to the other eye.
- Radiation therapy to both eyes if there is potential for vision in both eyes.
- Clinical trials testing systemic chemotherapy with or without other types of
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Treatment may be one of the following:
- Radiation therapy and/or
intrathecal (into the space between the lining of the spinal cord and
the brain) chemotherapy.
- Clinical trials are testing new combinations of chemotherapy drugs, with or without
peripheral stem cell transplantation, and different ways of administrating
Treatment depends on the site and extent
of the recurrence (or progression). If the cancer comes back only in the
eye and is small, your child may have surgery or radiation therapy. If
the cancer comes back outside of the eye, treatment will depend on many
factors and individual patient needs. You may want to consider having your
child participate in a clinical trial.