Select the events that must occur for inherited retinoblastoma to develop. check all that apply.
OverviewRetinoblastoma is an eye cancer that begins in the retina — the sensitive lining on the inside of your eye. Retinoblastoma most commonly affects young children, but can rarely occur in adults. Show
Your retina is made up of nerve tissue that senses light as it comes through the front of your eye. The retina sends signals through your optic nerve to your brain, where these signals are interpreted as images. A rare form of eye cancer, retinoblastoma is the most common form of cancer affecting the eye in children. Retinoblastoma may occur in one or both eyes.
Your eye is a complex and compact structure measuring about 1 inch (2.5 centimeters) in diameter. It receives millions of pieces of information about the outside world, which are quickly processed by your brain. SymptomsBecause retinoblastoma mostly affects infants and small children, symptoms aren't common. Signs you may notice include:
When to see a doctorMake an appointment with your child's doctor if you notice any changes to your child's eyes that concern you. Retinoblastoma is a rare cancer, so your child's doctor may explore other more common eye conditions first. If you have a family history of retinoblastoma, discuss it with your doctor if you're planning to have children. CausesRetinoblastoma occurs when nerve cells in the retina develop genetic mutations. These mutations cause the cells to continue growing and multiplying when healthy cells would die. This accumulating mass of cells forms a tumor. Retinoblastoma cells can invade further into the eye and nearby structures. Retinoblastoma can also spread (metastasize) to other areas of the body, including the brain and spine. For most instances of retinoblastoma, it's not clear what causes the genetic mutation that leads to cancer. However, it's possible for children to inherit a genetic mutation from their parents. Retinoblastoma that is inheritedGene mutations that increase the risk of retinoblastoma and other cancers can be passed from parents to children. Hereditary retinoblastoma is passed from parents to children in an autosomal dominant pattern, which means only one parent needs a single copy of the mutated gene to pass the increased risk of retinoblastoma on to the children. If one parent carries a mutated gene, each child has a 50% chance of inheriting that gene. Although a genetic mutation increases a child's risk of retinoblastoma, it doesn't mean that cancer is inevitable. Children with the inherited form of retinoblastoma tend to develop the disease at an earlier age. Hereditary retinoblastoma also tends to occur in both eyes, as opposed to just one eye.
In an autosomal dominant disorder, one mutated gene is inherited from one parent. A person with an autosomal dominant disorder has a 50% chance of passing on the mutated gene to an affected child) and a 50% chance of having an unaffected child with two normal genes. ComplicationsChildren treated for retinoblastoma have a risk of cancer returning in and around the treated eye. For this reason, your child's doctor will schedule follow-up exams to check for recurrent retinoblastoma. The doctor may design a personalized follow-up appointment schedule for your child that includes frequent eye exams. Additionally, children with the inherited form of retinoblastoma have an increased risk of developing other types of cancers in any part of the body in the years after treatment, especially pineoblastoma, a type of brain tumor. For this reason, children with inherited retinoblastoma may have regular exams to screen for other cancers. PreventionDoctors aren't sure what causes most instances of retinoblastoma, so there's no proven way to prevent the disease. Prevention for families with inherited retinoblastomaIf your child is diagnosed with retinoblastoma, your doctor may recommend genetic testing to determine whether the cancer was caused by an inherited gene mutation. Your doctor may recommend that you meet with a genetic counselor who can help you decide whether to undergo genetic testing. Genetic testing enables families to know whether their children may have an increased risk of retinoblastoma, so medical care can be planned accordingly. For instance, eye exams may begin soon after birth or, in some situations, before a baby is born. That way, retinoblastoma may be diagnosed very early — when the tumor is small and a chance for a cure and preservation of vision is still possible. Genetic testing can be used to determine whether:
DiagnosisTests and procedures used to diagnose retinoblastoma include:
TreatmentThe best treatments for your child's retinoblastoma depend on the size and location of the tumor, whether cancer has spread to areas other than the eye, your child's overall health, and your own preferences. The goal of treatment is to cure the cancer. When possible, doctors try to choose treatments that won't result in removal of the eye or a loss of vision. ChemotherapyChemotherapy is a drug treatment that uses chemicals to kill cancer cells. In children with retinoblastoma, chemotherapy may help shrink a tumor so that another treatment, such as cryotherapy or laser therapy, may be used to treat the remaining cancer cells. This may improve the chances that your child won't need surgery to remove the eye. Types of chemotherapy used to treat retinoblastoma include:
Radiation therapyRadiation therapy uses high-powered energy, such as X-rays and protons, to kill cancer cells. Types of radiation therapy used in treating retinoblastoma include:
Laser therapy (transpupillary thermotherapy)During laser therapy, a heat laser is used to directly destroy the tumor cells. Cold treatment (cryotherapy)Cryotherapy uses extreme cold to kill cancer cells. During cryotherapy, a very cold substance, such as liquid nitrogen, is placed in or near the cancer cells. Once the cells freeze, the cold substance is removed and the cells thaw. This process of freezing and thawing, repeated a few times in each cryotherapy session, causes the cancerous cells to die. Eye removal surgeryWhen the cancer is too large to be treated by other methods, surgery to remove the eye may be used to treat retinoblastoma. In these situations, eye removal may help prevent the spread of cancer to other parts of the body. Eye removal surgery for retinoblastoma includes:
Side effects of surgery include infection and bleeding. Removing an eye will affect your child's vision, though most children will adapt to the loss of an eye over time. Your child may need to wear special shatter-resistant glasses and sport goggles at all times to protect the remaining eye. Clinical trialsClinical trials are studies to test new treatments and new ways of using existing treatments. While clinical trials give your child a chance to try the latest in retinoblastoma treatments, they can't guarantee a cure. Ask your child's doctor whether your child is eligible to participate in clinical trials. Your child's doctor can discuss the benefits and risks of enrolling in a clinical trial. Coping and supportWhen your child is diagnosed with cancer, it's common to feel a range of emotions — from shock and disbelief to guilt and anger. Everyone finds his or her own way of coping with stressful situations, but if you're feeling lost, you might try to:
Preparing for an appointmentStart by making an appointment with your child's doctor or pediatrician if your child has any signs or symptoms that worry you. If an eye problem is suspected, you may be referred to a doctor who specializes in treating eye cancer (ocular oncologist). Because appointments can be brief, and because there's often a lot of information to discuss, it's a good idea to be prepared. Here's some information to help you get ready, and what to expect from your child's doctor. What you can do
Your time with your child's doctor is limited, so preparing a list of questions ahead of time can help you make the most of the time. List your questions from most important to least important in case time runs out. For retinoblastoma, some basic questions to ask your child's doctor include:
In addition to the questions that you've prepared to ask your child's doctor, don't hesitate to ask other questions during your appointment. What to expect from your child's doctorYour child's doctor is likely to ask you a number of questions. Being ready to answer them may allow more time to cover other points. Your child's doctor may ask:
© 2022 Mayo Foundation for Medical Education and Research (MFMER). All rights reserved. Terms of Use What is the pattern of inheritance for retinoblastoma?In hereditary retinoblastoma, mutations in the RB1 gene appear to be inherited in an autosomal dominant pattern. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to increase the risk of cancer.
What is the inherited form of retinoblastoma Rb caused by?Hereditary retinoblastoma is caused by changes in a gene known as RB1. Genes carry important information that tells our body's cells how to function. The RB1 gene controls how cells grow and divide. One of its main jobs is to prevent tumors from forming, particularly retinoblastoma.
What is retinoblastoma and what is the pattern of inheritance for this type of cancer?Autosomal dominant inheritance pattern
Retinoblastoma occurs when nerve cells in the retina develop genetic mutations. These mutations cause the cells to continue growing and multiplying when healthy cells would die. This accumulating mass of cells forms a tumor.
Which mechanism is responsible for retinoblastoma quizlet?Which mechanism is responsible for retinoblastoma? A mutation or deletion of a tumor suppressor gene such as p53, p14, or RB1( the retinoblastoma gene) causes loss of a protein that inhibits mitosis and is associated with an increased risk of malignancy.
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