Retinoblastoma - ChildhoodLast Updated: July 11, 2011 This section has been reviewed and approved by the Cancer.Net Editorial Board, 04/11 Overview
Cancer begins when normal cells begin to change and grow uncontrollably, forming a mass called a tumor. A tumor can be benign (noncancerous) or malignant (cancerous, meaning it can spread to other parts of the body). Retinoblastoma is a rare cancer that begins in the part of the eye called the retina. The retina is a thin layer of nerve tissue that coats the back of the eye and enables the eye to see. Most often, retinoblastoma is unilateral, meaning it occurs only in one eye; however, it may be present in both eyes, called bilateral. If retinoblastoma spreads, it can spread to the lymph nodes, bones, or the bone marrow (the soft, spongy-like material found inside large bones). Rarely, it involves the central nervous system (CNS; brain and spinal cord). Children may be born with retinoblastoma, but the disease is rarely diagnosed at birth. Most children who begin treatment before the retinoblastoma has spread beyond the eye are cured. An important goal of treatment in children with retinoblastoma is preserving vision. Find out more about basic cancer terms used in this section. Looking for More of an Overview? If you would like additional introductory information, explore these related items on Cancer.Net:
Or, choose “Next” (below, right) to continue reading this detailed section. To select a specific topic within this section, use the icon panel located on the right side of your screen. Statistics
Each year, about 300 children in the United States are diagnosed with retinoblastoma. Most children who are diagnosed with retinoblastoma are younger than five years old. Retinoblastoma makes up 3% of all cancers diagnosed in children 14 years old and younger. The five-year survival rate (the percentage of children who survive at least five years after the cancer is detected, excluding those who die from other diseases) for children with retinoblastoma is more than 90%. Cancer survival statistics should be interpreted with caution. These estimates are based on data from thousands of children of this type of cancer, but the actual risk for a particular individual may differ. It is not possible to tell a person how long he or she will live with retinoblastoma. Because the survival statistics are measured in five-year intervals, they may not represent advances made in the treatment or diagnosis of this cancer. Statistics adapted from the American Cancer Society's publication, Cancer Facts and Figures 2011. Medical Illustrations
Risk Factors
A risk factor is anything that increases a person’s chance of developing cancer. Although risk factors can influence the development of cancer, most do not directly cause cancer. Some people with several risk factors never develop cancer, while others with no known risk factors do. Currently, the only known cause of retinoblastoma is a genetic mutation (change). This genetic form of retinoblastoma accounts for about 40% of cases and always occurs in very young children (rarely older than one year). When retinoblastoma affects both eyes, it is always a genetic condition. Despite the genetic link, only 10% to 15% of children with retinoblastoma have a family history of the disease. Rarely, the genetic form occurs in only one eye. Children who have had bilateral retinoblastoma or the hereditary form of unilateral retinoblastoma are at increased risk for developing other types of cancer; the risk of additional tumors is higher for children who receive radiation therapy to the orbit (eye socket) to preserve vision or to other parts of the body where the tumor has spread. If a newborn has a family history of retinoblastoma, the baby should be examined shortly after birth by an ophthalmologist (a medical doctor who specializes in eye care) who is experienced in treating cancers of the eye. About 60% of children with retinoblastoma do not have the genetic form. They develop a single tumor in only one eye, and they have no increased risk of additional tumors later in life. Symptoms and Signs
Children with retinoblastoma often experience the following symptoms or signs. Sometimes, children with retinoblastoma do not show any of these symptoms. Or, these symptoms may be caused by a medical condition that is not cancer. If you are concerned about a symptom or sign on this list, please talk with your child’s doctor. Sometimes, a doctor finds retinoblastoma during a well-baby examination. Most often, however, parents notice symptoms or signs such as:
Your child’s doctor will ask questions about the symptoms your child is experiencing to help find out the cause of the problem, called a diagnosis. This may include how long your child has been experiencing the symptom(s) and how often. If cancer is diagnosed, relieving symptoms and side effects remains an important part of your child’s cancer care and treatment. This may also be called symptom management, palliative care, or supportive care. Be sure to talk with your health care team about symptoms your child experiences, including any new symptoms or a change in symptoms. Diagnosis
Doctors use many tests to diagnose cancer and find out if it has metastasized (spread). Some tests may also determine which treatments may be the most effective. Although a biopsy is the way to make a definitive diagnosis for most types of cancer, this is usually not possible for retinoblastoma, and the doctor will suggest other ways to make a diagnosis. Imaging tests may be used to find out whether the cancer has metastasized. Your doctor may consider these factors when choosing a diagnostic test:
The next step after observing any symptoms (see Symptoms) is to have the child examined by a specialist, who will do a thorough ophthalmic examination to check the retina for a tumor. Depending on the child’s age, either a local or general anesthetic (medication that block the awareness of pain) is used during the eye examination. The specialist will make a drawing or take a photograph of the tumor in the eye to provide a record for future examinations and treatment. Additional tests may also be done to locate or confirm a tumor. In addition to a physical examination, the following tests may be used to diagnose retinoblastoma: Ultrasound. An ultrasound uses sound waves to create pictures of the internal organs. A transmitter that emits sound waves is moved over the child’s body. Tumors generate different echoes of the sound waves than normal tissue does, so when the waves are bounced back to a computer and changed into images, the doctor can locate masses inside the body. The procedure is painless. Computed tomography (CT or CAT) scan. A CT scan creates a three-dimensional picture of the inside of the child’s body with an x-ray machine. A computer then combines these images into a detailed, cross-sectional view that shows any abnormalities or tumors. Sometimes, a contrast medium (a special dye) is injected into the child’s vein to provide better detail. A CT scan helps the doctor find cancer outside of the eye. Magnetic resonance imaging (MRI). An MRI uses magnetic fields, not x-rays, to produce detailed images of the brain and spinal column. MRIs may create more detailed pictures than CT scans and provide the specialist with a picture of the inside of the eye and the brain. MRI or CT scan of the brain. These tests may be recommended to find out if there is an abnormality of the pineal gland (a small gland in the brain that regulates the body’s response to light). It is recommended that these scans be performed once every six months until age five for children with the genetic form of retinoblastoma (those with bilateral disease and those with unilateral disease with a family history of the disease). Very young children with a tumor in one eye who do not have a family history of the disease may also be at risk, and these tests may be recommended. Scans may also be recommended years after treatment for children who have received external-beam radiation therapy (see Treatment), either as a baseline in case of problems in the future, or to determine the cause of a symptom or sign. If there are any additional signs found during the physical examination, the doctor may recommend additional tests to determine if the cancer has spread elsewhere in the body. Blood tests. These tests evaluate the blood and check for problems with the liver and kidneys. The doctor may also look at the blood for changes in chromosome 13. Chromosomes are the parts of a cell that contain genes, and in a few cases of retinoblastoma, these genes are either missing or nonfunctional. Molecular analysis of the gene is now possible in a few medical centers to determine changes that are not visible on ordinary chromosome analysis. Lumbar puncture (spinal tap). A lumbar puncture is a procedure in which a doctor takes a sample of cerebral spinal fluid (CSF) to look for cancer cells, blood, or tumor markers (substances found in higher than normal amounts in the blood, urine, or body tissues of people with certain kinds of cancer.) CSF is the fluid that flows around the brain and the spinal cord. Doctors generally give an anesthetic to numb the lower back before the procedure. Bone marrow biopsy and aspiration. These procedures are performed to determine if any retinoblastoma cells have spread to the bone marrow and are often done at the same time. Bone marrow has both a solid and a liquid part. A bone marrow biopsy is the removal of a small amount of solid tissue using a needle. An aspiration removes a sample of fluid with a needle. The sample(s) are then analyzed by a pathologist (a doctor who specializes in interpreting laboratory tests and evaluating cells, tissues, and organs to diagnose disease. A common site for a bone marrow biopsy and aspiration is the pelvic bone, which is located in the lower back by the hip. The skin is usually numbed with medication beforehand, and other types of anesthesia may be used. Hearing test. Children with retinoblastoma taking certain chemotherapy (see Treatment) may have their hearing tested (called an audiology test) to make sure the drugs are not causing hearing loss. Learn more about what to expect when having common tests, procedures, and scans. After these diagnostic tests are done, your doctor will review all of the results with you. If the diagnosis is cancer, these results also help the doctor describe the cancer; this is called staging. Learn more about the first steps to take after a diagnosis of cancer. Staging
Staging is a way of describing a cancer, such as where it is located, if or where it has spread, and whether it is affecting the functions of other organs in the body. Doctors use diagnostic tests to determine the cancer's stage, so staging may not be complete until all the tests are finished. Knowing the stage helps the doctor to decide what kind of treatment is best and can help predict a patient's prognosis (chance of recovery). There are different stage descriptions for different types of cancer. After a retinoblastoma has been found, the doctor will determine the extent of disease in the eye and if the disease has spread outside the eye. This is called staging, and it helps doctors plan treatment. First, the doctor will determine if the retinoblastoma is intraocular or extraocular: Intraocular. This means that cancer occurs in one or both eyes, but has not spread into surrounding tissues or other parts of the body. Extraocular. The cancer has spread to tissues around the eye or to other parts of the body. Several intraocular staging systems have been in use for many years to help doctors plan treatment. However, the recent success of clinical trials (research studies) demonstrating the effectiveness of chemotherapy to shrink tumors has led to the development of a newer staging system called the International Classification System. International (ABC) Classification System Group A:
Group B:
Group C:
Group D:
Group E: No visual potential, or: Presence of one or more:
Recurrent. Recurrent cancer is cancer that comes back after treatment. If there is a recurrence, the cancer may need to be staged again (re-staging) using the system above. Treatment
In general, cancer in children is uncommon, so it can be hard for doctors to plan treatments unless they know what has been most effective in other children. That’s why more than 60% of children with cancer are treated as part of a clinical trial. Clinical trials are research studies that compare standard treatments (the best proven treatments available) with newer treatments that may be more effective. Investigating new treatments involves careful monitoring using scientific methods, and all participants are followed closely to track their health and progress. To take advantage of these newer treatments, all children with cancer should be treated at a specialized cancer center. Doctors at these centers have extensive experience in treating children with cancer and have access to the latest research. A doctor who specializes in treating children with cancer is called a pediatric oncologist. In many cases, a team of doctors treats a child with cancer; this is called a multidisciplinary team. Pediatric cancer centers often have extra support services for children and their families, such as child life specialists, nutritionists, social workers, and counselors. Special activities and programs to help your child and family cope may also be available. Several types of therapies are used for retinoblastoma, and more than 90% of children can be cured. In addition to curing the retinoblastoma, an important goal of treatment is the preservation of vision. Many of these treatment approaches described below have become available as a result of clinical trials. The Children’s Oncology Group has recently developed treatment clinical trials that include retinoblastoma. Descriptions of the most common treatment options for retinoblastoma are listed below. Treatment options and recommendations depend on several factors, including the type and stage of cancer, possible side effects, and the patient’s preferences and overall health. Learn more about making treatment decisions. Surgery Surgery is the removal of the tumor and surrounding tissue during an operation. Surgery to remove the eye is called enucleation. Children with a tumor in one eye only can often be cured with this treatment. For children with a tumor in both eyes, enucleation is used only if the ocular oncologist (a doctor who specializes in eye cancer) determines that preserving vision using other treatment is not possible. Surgical treatment for retinoblastoma should be performed by a specially trained pediatric ophthalmologist. If enucleation is the best treatment to cure the cancer, there will be some visual loss. This may result in trouble with depth perception, but most children adapt well to these differences. Many people worry about what they will look like when they have an eye removed. The cosmetic surgery available today usually has good cosmetic results. To fill the area left by the missing eye, the person is fitted for an artificial eye, called a prosthesis. The prosthesis will look and behave almost the same as a natural eye. For example, the artificial eye will move along with the person’s remaining eye, just not as much as a natural eye moves. Family members may be able to tell that the eye is not real, but it is unlikely that strangers will know. If enucleation is required, talk with your doctor about a prosthesis; it may take many weeks for patients to receive the prosthesis. Learn more about cancer surgery. Radiation therapy Radiation therapy is the use of high-energy x-rays or other particles to kill cancer cells. A doctor who specializes in giving radiation therapy to treat cancer is called a radiation oncologist. The most common type of radiation treatment is called external-beam radiation therapy, which is radiation therapy given from a machine outside the body. Radioactive plaque therapy, also called internal radiation therapy or brachytherapy, is the delivery of radiation therapy directly to the eye with a disc containing radiation. A radiation therapy regimen (schedule) usually consists of a specific number of treatments given over a set period of time. Fatigue, drowsiness, nausea, vomiting, and headache are common side effects of radiation therapy, and these usually go away after treatment. Radiation therapy in young children can interfere with normal growth, including growth of the bones around the eye, depending on the dose. The increased risk of additional tumors later in life for children with the hereditary form of retinoblastoma is further increased after external-beam radiation therapy. These effects are not seen after radioactive plaque therapy. Learn more about radiation therapy. Cryotherapy Cryosurgery, also called cryotherapy or cryoablation, uses liquid nitrogen to freeze and kill cells. More than one freezing may be needed. Laser therapy Laser therapy uses heat in the form of a laser to shrink smaller tumors. It may be called thermotherapy (or TTT for transpupillary thermotherapy), and it may be used alone or in addition to cryotherapy or radiation therapy. Photocoagulation is a different type of laser therapy that uses light to shrink tumors. Chemotherapy Chemotherapy is the use of drugs to kill cancer cells, usually by stopping the cancer cells’ ability to grow and divide and may be used to shrink tumors in the eye. Systemic chemotherapy is delivered through the bloodstream to reach cancer cells throughout the body. Chemotherapy is given by a medical oncologist, a doctor who specializes in treating cancer with medication. A chemotherapy regimen usually consists of a specific number of cycles given over a set period of time. Chemotherapy often makes it possible to completely get rid of any remaining smaller tumors with the following focal (localized) measures:
Chemoreduction is a treatment approach that is often used for children with retinoblastoma in both eyes in the hope of avoiding enucleation and preserving vision in at least one eye. The ophthalmologist, working closely with the pediatric oncologist, will determine if this treatment is appropriate. Both doctors will regularly monitor how the treatment is affecting the cancer and may recommend additional treatment to prevent the cancer from returning. The drugs used most often for retinoblastoma are vincristine (Vincasar), carboplatin (Paraplatin), and etoposide (VePesid, Toposar). Depending on the extent of the tumor, a combination of two or more drugs will be recommended. All chemotherapy has side effects that occur during treatment. Some drugs have the potential for specific long-term side effects. Talk with your doctor about the specific drugs used and the possible long-term side effects before treatment begins. Learn more about chemotherapy and preparing for treatment. The medications used to treat cancer are continually being evaluated. Talking with your child’s doctor is often the best way to learn about the medications prescribed for you, their purpose, and their potential side effects or interactions with other medications. Learn more about your child’s prescriptions by using searchable drug databases. Recurrent retinoblastoma Once your child’s treatment is complete and there is a remission (absence of cancer symptoms; also called “no evidence of disease” or NED), talk with the doctor about the possibility of the cancer returning. Many parents feel worried or anxious that the cancer will come back. Learn more about coping with this fear. If the cancer returns after the original treatment, it is called recurrent cancer. It may come back in the same place (called a local recurrence), nearby (regional recurrence), or in another place (distant recurrence). When this occurs, a cycle of testing will begin again to learn as much as possible about the recurrence. After testing is done, you and your child’s doctor will talk about your treatment options. If retinoblastoma returns after treatment, the treatment plan depends on where the cancer recurred and how aggressive the new tumor is. The doctor may recommend surgery, radiation therapy, chemotherapy, and/or focal measures, such as photocoagulation, thermotherapy, or cryotherapy (see above). The doctor may also suggest clinical trials that are studying new ways to treat this type of recurrent cancer. People with recurrent cancer and their families often experience emotions such as disbelief or fear. Parents are encouraged to talk with their health care team about these feelings and ask about support services to help them cope. Learn more about dealing with cancer recurrence. If treatment fails Although treatment is successful for the majority of children with cancer, sometimes it is not. If a child’s cancer cannot be cured or controlled, this is called advanced or terminal cancer. This diagnosis is stressful, and it may be difficult to discuss. However, it is important to have open and honest conversations with your child’s doctor and health care team to express your family’s feelings, preferences, and concerns. The health care team is there to help, and many team members have special skills, experience, and knowledge to support patients and their families. Parents or guardians are encouraged to think about where the child would be most comfortable: at home, in a home-like setting elsewhere, in the hospital, or in a hospice environment. Nursing care and special equipment can make staying at home a workable alternative for many families. Some children may be happier if they can arrange to attend school part-time or keep up other activities and social connections. The child’s health care team can help parents or guardians decide on an appropriate level of activity. Making sure a child is physically comfortable and free from pain is extremely important as part of end-of-life care. Learn more about caring for a terminally ill child and advanced cancer care planning. The death of a child is an enormous tragedy, and families may need support to help them cope with the loss. Pediatric cancer centers often have professional staff and support groups to help with the process of grieving. Learn more on grieving the loss of a child. Find out more about common terms used during cancer treatment. About Clinical Trials
Doctors and scientists are always looking for better ways to treat children with retinoblastoma. To make scientific advances, doctors create research studies involving people, called clinical trials. Many clinical trials are focused on new treatments, evaluating whether a new treatment is safe, effective, and possibly better than the current (standard) treatment. These types of studies evaluate new drugs, different combinations of existing treatments, new approaches to radiation therapy or surgery, and new methods of treatment. Children who participate in clinical trials are among the first to receive new treatments before they are widely available. However, there is no guarantee that the new treatment will be safe, effective, or better than a standard treatment. There are also clinical trials that study new ways to ease symptoms and side effects during treatment and managing the late effects that may occur after treatment. Talk with your doctor about clinical trials regarding side effects. In addition, there are ongoing studies about ways to prevent the disease. Patients decide to participate in clinical trials for many reasons. For some patients, a clinical trial is the best treatment option available. Because standard treatments are not perfect, patients are often willing to face the added uncertainty of a clinical trial in the hope of a better result. Other patients volunteer for clinical trials because they know that these studies are the only way to make progress in treating retinoblastoma. Even if they do not benefit directly from the clinical trial, their participation may benefit future patients with retinoblastoma. Sometimes people have concerns that, by participating in a clinical trial, they may receive no treatment by being given a placebo or a “sugar pill.” The use of placebos in cancer clinical trials is rare. When a placebo is used in a study, it is done with the full knowledge of the participants. Find out more about placebos in cancer clinical trials. To join a clinical trial, parents and children must participate in a process known as informed consent. During informed consent, the doctor should list all of the patient’s options, so that the person understands how the new treatment differs from the standard treatment. The doctor must also list all of the risks of the new treatment, which may or may not be different from the risks of standard treatment. Finally, the doctor must explain what will be required of each patient in order to participate in the clinical trial, including the number of doctor visits, tests, and the schedule of treatment. Learn more about clinical trials, including patient safety, phases of a clinical trial, deciding to participate in a clinical trial, questions to ask the research team, and links to find clinical trials. For specific topics being studied for retinoblastoma, learn more in the Current Research section. Children who participate in a clinical trial may stop participating at any time for any personal or medical reason. This may include that the new treatment is not working or there are serious side effects. It is important that parents with a child participating in a clinical trial talk with their child’s doctor and researchers about who will be providing their treatment and care during the clinical trial, after the clinical trial ends, and/or if the child leaves the clinical trial before it ends. Side Effects
Cancer and its treatment can cause a variety of side effects. However, doctors have made major strides in recent years in reducing pain, nausea and vomiting, and other physical side effects of cancer treatments. Many treatments used today are less intensive but as effective as treatments used in the past. Doctors also have many ways to provide relief to patients when such side effects occur. Fear of treatment side effects is common after a diagnosis of cancer, but it may be helpful to know that preventing and controlling side effects is a major focus of your child’s health care team. Before treatment begins, talk with your child’s doctor about possible side effects of the specific treatments your child will be receiving. The specific side effects that can occur depend on a variety of factors, including the type of cancer, its location, the individual treatment plan (including the length and dosage of treatment), and the child’s overall health. Common side effects for each treatment option are described in detail within the Treatment section. Ask your child’s doctor which side effects are most likely to happen (and which are not), when side effects are likely to occur, and how they will be addressed by the health care team. Also, be sure to communicate with the doctor about side effects your child experiences during and after treatment. Care of a patient’s symptoms and side effects is an important part of a person’s overall treatment plan; this is called palliative or supportive care. It helps people with cancer at any stage of illness be as comfortable as possible. Learn more about the most common side effects of cancer and different treatments, along with ways to prevent or control them. Be sure to talk with the doctor about the level of caregiving your child may need during treatment and recovery, as family members and friends often play an important role in the care of a child with retinoblastoma. Learn more about caregiving. In addition to physical side effects, there may be psychosocial (emotional and social) effects as well. For many families, a diagnosis of retinoblastoma is stressful and can bring difficult emotions. Patients and their families are encouraged to share their feelings with a member of their health care team who can help with coping strategies. Learn more about the importance of addressing such needs, including concerns about managing the cost of your child's cancer care. A side effect that occurs more than five years after treatment is called a late effect. Treatment of late effects is an important part of survivorship care. Learn more about late effects or long-term side effects by reading the After Treatment section or talking with your child’s doctor. After Treatment
After treatment for retinoblastoma ends, talk with your child’s doctor about developing a follow-up care plan. This plan may include regular physical examinations and/or medical tests to monitor your child’s recovery for the coming months and years. All children treated for cancer, including retinoblastoma, should have life-long, follow-up care. At first, follow-up visits will focus on making sure the cancer is gone and hasn’t returned. Once a child has been free of retinoblastoma for two to four years after treatment, and is considered cured, the emphasis during periodic follow-up visits changes. Pediatric oncologists will focus on the quality of the child’s life, including developmental and emotional concerns. If enucleation took place, most young children adapt well to the loss of one eye. Rarely, both eyes will need to be removed to save the child’s life. If both eyes are removed, the local educational system is required to provide special services. Parents are encouraged to investigate the school’s services and advocate on their child’s behalf. Other rehabilitation services may also be needed to help the child cope with the vision loss. Based on the type of treatment the child received and whether the child has the genetic form of retinoblastoma, the doctor will determine what evaluations are needed to check for long-term effects. This may include imaging studies (CT scan or MRI) and blood tests. Counseling will also be provided for children who have an increased risk of additional tumors later in life, such as those with retinoblastoma in both eyes and those with retinoblastoma in one eye who have a family history of the disease. Yearly visits to specialized ophthalmologic and medical oncologists are necessary in order to fully monitor the child’s recovery and to find any secondary cancer in its earliest stages. Follow-up care should also address any developmental or emotional concerns. Learn more about childhood cancer survivorship. The child’s family is encouraged to organize and keep a record of the child’s medical information, so that as the child enters adulthood, he or she has a clear, written history of the diagnosis, the treatment given, and the doctor’s recommendations about the schedule for follow-up care. The doctor’s office can help you compile this. This information will be valuable to doctors who care for your child during his or her lifetime. ASCO offers cancer treatment summary forms to help keep track of the cancer treatment your child received and develop a survivorship care plan once treatment is completed. Children who have had cancer can also enhance the quality of their future by following established guidelines for good health into and through adulthood, including not smoking, maintaining a healthy weight, eating a balanced diet, and participating in regular physical activity. Talk with the doctor about developing a plan that is best for your child’s needs. Learn more about the next steps to take in survivorship. Find out more about common terms used after cancer treatment is complete. Current Research
Doctors are working to learn more about retinoblastoma, ways to prevent it, how to best treat it, and how to provide the best care to children diagnosed with this disease. The Children’s Oncology Group has begun clinical trials to research the treatment options listed below, and these clinical trials may be open for some children with retinoblastoma. Always discuss all diagnostic and treatment options with your child’s doctor.
Learn more about common statistical terms used in cancer research. Looking for More about Current Research? If you would like additional information about the latest areas of research regarding retinoblastoma, explore these related items:
Questions to Ask the Doctor
Talking often with the doctor is important to make informed decisions about your child’s health care. These suggested questions are a starting point to help you learn more about your child’s cancer care and treatment. You are also encouraged to ask additional questions that are important to you.
Patient Information Resources
In addition to Cancer.Net, there are other sources of information about this type of cancer available online. Cancer.Net maintains a list of national, not-for-profit organizations that may be helpful in finding additional information, services, and support. As always, be sure to talk with your doctor about questions you may have about information you find about this disease. View organizations that offer information on this specific type of cancer. |
