Los avances de la medicina en el campo de la genética, por ende de la herencia, están modificando el paisaje del conocimiento médico de las enfermedades. Este BLOG intenta informar acerca de los avances proveyendo orientación al enfermo y su familia así como información científica al profesional del equipo de salud de habla hispana.
jueves, 30 de agosto de 2018
Retinoblastoma Treatment (PDQ®)—Patient Version - National Cancer Institute
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 nervetissue 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.
ENLARGEAnatomy of the eye, showing the outside and inside of the eye including the sclera, cornea, iris, ciliary body, choroid, retina, vitreous humor, and optic nerve. The vitreous humor is a gel that fills the center of the eye.
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 certain mutation (change) in the RB1gene. 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).
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 choroidto 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.ENLARGEComputed tomography (CT) scan of the head and neck. The child lies on a table that slides through the CT scanner, which takes x-ray pictures of the inside of the head and neck.
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.
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