Tratamiento del tumor teratoideo/rabdoideo atípico del sistema nervioso central

Central nervous system (CNS) atypical teratoid/rhabdoid tumor (AT/RT) is a cancer that forms in the tissues of the brain.

Central nervous system (CNS) atypical teratoid/rhabdoid tumor (AT/RT) is a very rare, fast-growing cancer that begins in the brain and spinal cord. It usually occurs in children aged 3 years and younger, although it can occur in older children and adults.

About half of these tumors form in the cerebellum or brain stem. The cerebellum is the part of the brain that controls movement, balance, and posture. The brain stem controls breathing, heart rate, and the nerves and muscles used in seeing, hearing, walking, talking, and eating. AT/RT can also begin in other parts of the brain and spinal cord.

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Anatomy of the brain. The supratentorial area (the upper part of the brain) contains the cerebrum, lateral ventricle and third ventricle (with cerebrospinal fluid shown in blue), choroid plexus, pineal gland, hypothalamus, pituitary gland, and optic nerve. The posterior fossa/infratentorial area (the lower back part of the brain) contains the cerebellum, tectum, fourth ventricle, and brain stem (midbrain, pons, and medulla). The skull and meninges protect the brain and spinal cord.

Certain genetic changes may increase the risk of AT/RT.

A risk factor is anything that increases the chance of getting a disease. Not every child with one or more of these risk factors will develop AT/RT. And it will develop in some children who don't have a known risk factor.

AT/RT may be linked to changes in the tumor suppressor genes SMARCB1 or SMARCA4. Tumor suppressor genes make a protein that helps control how and when cells grow. Changes in the DNA of tumor suppressor genes like SMARCB1 or SMARCA4 may lead to cancer.

The changes in the SMARCB1 or SMARCA4 genes may be inherited (passed on from parents to offspring). When this gene change is inherited, tumors may form in two parts of the body at the same time (for example, in the brain and the kidney). For children with AT/RT, genetic counseling (a discussion with a trained professional about inherited diseases and a possible need for gene testing) may be recommended.

Hable con el pediatra si cree que su hijo o su hija puede estar en riesgo.

The symptoms of AT/RT are not the same in every person.

Symptoms depend on:

• la edad del niño
• where the tumor has formed

Because AT/RT is fast growing, symptoms may develop quickly and get worse over a period of days or weeks. It's important to check with your child's doctor if your child has:

• a morning headache or headache that goes away after vomiting
• náuseas y vómitos
• somnolencia inusual o cambio en el nivel de actividad
• pérdida de equilibrio, falta de coordinación o dificultad para caminar
• an increase in head size (in infants)
• pain, tingling, numbness, or paralysis in the face

These symptoms may be caused by problems other than AT/RT. The only way to know is to see your child's doctor.

CNS AT/RT is found with tests that examine the brain and spinal cord.

If your child has symptoms that suggest AT/RT, the doctor will need to find out if these are due to cancer or another problem. The doctor will ask when the symptoms started and how often your child has been having them. They will also ask about your child's personal and family health history and do a physical exam, including a neurological exam. Depending on these results, they may recommend other tests. If your child is diagnosed with AT/RT, the results of these tests will help you and your child's doctor plan treatment.

The tests used to diagnose AT/RT may include:

• Magnetic resonance imaging (MRI) uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the brain and spinal cord. This procedure is also called nuclear magnetic resonance imaging (NMRI).
• Lumbar puncture is 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 lining around the spinal cord to remove a sample of the CSF. The sample of CSF is checked under a microscope for signs of tumor cells. The sample may also be checked for the amounts of protein and glucose. This procedure is also called an LP or spinal tap.
• SMARCB1 and SMARCA4 gene testing is a laboratory test in which a sample of blood or tissue is tested for certain changes in the SMARCB1 y SMARCA4 genes. Children with AT/RT may be eligible for gene testing through the Molecular Characterization Initiative.

  The Molecular Characterization Initiative offers free molecular testing to children, adolescents, and young adults with certain types of newly diagnosed cancer. The program is offered through NCI's Childhood Cancer Data Initiative. To learn more, visit About the Molecular Characterization Initiative.

• Ultrasound exam uses high-energy sound waves (ultrasound) that bounce off internal tissues or organs, such as the kidney, and make echoes. The echoes form a picture of body tissues called a sonogram. This procedure is done to check for tumors that may also have formed in the kidney.

Childhood AT/RT is diagnosed using a biopsy, and the tumor may be removed in the same surgery.

If doctors think there might be a brain tumor, a biopsy may be done to remove a sample of tissue. For brain tumors, the biopsy can be done by removing part of the skull or making a small hole in the skull and using a needle or surgical device to remove a sample of tissue. Sometimes, when a needle is used, it is guided by a computer to remove the tissue sample. A pathologist views the tissue under a microscope to look for cancer cells. If cancer cells are found, the doctor may remove as much tumor as safely possible during the same surgery. The pathologist checks the cancer cells to find out the type of brain tumor. It is often difficult to completely remove AT/RT because of where the tumor is in the brain and because it may already have spread at the time of diagnosis. The piece of skull is usually put back in place after the procedure.

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Craniotomy. An opening is made in the skull and a piece of the skull is removed to show part of the brain.

The following test may be done on the sample of tissue that is removed:

• Immunohistochemistry uses antibodies to check for certain antigens (markers) in a sample of a patient's tissue. The antibodies are usually linked to an enzyme or a fluorescent dye. After the antibodies bind to a specific antigen in the tissue sample, the enzyme or dye is activated, and the antigen can then be seen under a microscope. This type of test is used to help diagnose cancer and to help tell one type of cancer from another type of cancer.

Existen factores que influyen en el pronóstico (es decir, la posibilidad de recuperación) y en las opciones de tratamiento disponibles.

If your child has been diagnosed with AT/RT, you likely have questions about how serious the cancer is and your child's chances of survival. The likely outcome or course of a disease is called prognosis.

El pronóstico depende de:

• whether your child has certain inherited gene changes
• whether the tumor has certain gene changes
• your child's age
• the amount of tumor remaining after surgery
• whether the cancer has spread to other parts of the brain and spinal cord or to the kidney at the time of diagnosis
• si el cáncer acaba de ser diagnosticado o ha regresado (regresado)

No two people are alike, and responses to treatment can vary greatly. Your child's cancer care team is in the best position to talk with you about your child's prognosis.

There is no standard staging system for central nervous system (CNS) atypical teratoid/rhabdoid tumor (AT/RT).

The process used to find out if cancer has spread to other parts of the body is called staging. There is no standard staging system for central nervous system (CNS) atypical teratoid/rhabdoid tumor (AT/RT).

For treatment, this tumor is grouped as newly diagnosed or recurrent. Treatment depends on:

• your child's age
• how much cancer remains after surgery to remove the tumor
• whether the cancer has spread to other parts of the CNS
• the results of tests and procedures done to diagnose the cancer

There are different types of treatment for children with central nervous system (CNS) atypical teratoid/rhabdoid tumor (AT/RT).

There are different types of treatment for children with AT/RT. You and your child's care team will work together to decide treatment. Many factors will be considered, such as where the cancer is located and your child's age and overall health.

Your child's treatment plan will include information about the tumor, the goals of treatment, treatment options, and the possible side effects. It will be helpful to talk with your child's care team before treatment begins about what to expect. For help every step of the way, see our booklet, Children with Cancer: A Guide for Parents.

Children with AT/RT should have their treatment planned by a team of health care providers who are experts in treating cancer in children.

A pediatric oncologist, a doctor who specializes in treating children with cancer, oversees treatment of AT/RT. The pediatric oncologist works with other health care providers who are experts in treating children with CNS cancer and also specialize in other areas of medicine. Other specialists may include:

• Pediatra
• pediatric neurosurgeon
• Oncólogo radioterapeuta
• Neurólogo
• Especialista en enfermería pediátrica
• Especialista en rehabilitación
• Psicólogo
• Trabajador social
• geneticist or genetic counselor
• Especialista en fertilidad

Childhood brain tumors may cause symptoms that begin before the cancer is diagnosed and continue for months or years.

Symptoms caused by the tumor may begin before diagnosis. These signs or symptoms may continue for months or years. It is important to talk with your child's doctors about symptoms caused by the tumor that may continue after treatment.

Se pueden utilizar los siguientes tipos de tratamiento:

Quimioterapia

Chemotherapy uses drugs to stop the growth of cancer cells. Chemotherapy either kills the cells or stops them from dividing. Chemotherapy may be given with other types of treatments.

Chemotherapy for AT/RT is injected into a vein. When given this way, the drugs enter the bloodstream and can reach tumor cells throughout the body. High doses of some chemotherapy drugs given into a vein can cross the blood-brain barrier and reach the tumor. Chemotherapy for AT/RT is also placed directly into the cerebrospinal fluid (intrathecal chemotherapy). Combination chemotherapy uses more than one anticancer drug.

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Intrathecal chemotherapy. Anticancer drugs are injected into the intrathecal space, which is the space that holds the cerebrospinal fluid (CSF, shown in blue). There are two different ways to do this. One way, shown in the top part of the figure, is to inject the drugs into an Ommaya reservoir (a dome-shaped container that is placed under the scalp during surgery; it holds the drugs as they flow through a small tube into the brain). The other way, shown in the bottom part of the figure, is to inject the drugs directly into the CSF in the lower part of the spinal column, after a small area on the lower back is numbed.

Chemotherapy drugs used alone or in combination to treat AT/RT in children include:

• Carboplatino
• Cisplatino
• Ciclofosfamida
• Citarabina
• Etopósido
• Metotrexato
• thiotepa

También pueden utilizarse otros medicamentos de quimioterapia no enumerados aquí.

Learn more about how chemotherapy works, how it is given, and common side effects at Chemotherapy to Treat Cancer.

Treatment for childhood CNS AT/RT may cause side effects.

Los tratamientos contra el cáncer pueden causar efectos secundarios. La naturaleza de estos efectos dependerá del tipo de tratamiento, la dosis administrada y cómo reaccione el cuerpo de su hijo o hija. Hable con el equipo de tratamiento de su hijo o hija sobre los efectos secundarios a los que debe prestar atención y las formas de controlarlos.

Para obtener más información sobre los efectos secundarios que aparecen durante el tratamiento del cáncer, consulte la sección Efectos secundarios.

Los problemas derivados del tratamiento del cáncer que comienzan 6 meses o más después del tratamiento y continúan durante meses o años se denominan efectos tardíos. Los efectos tardíos del tratamiento del cáncer pueden incluir:

• physical problems
• Cambios en el estado de ánimo, los sentimientos, el pensamiento, el aprendizaje o la memoria
• second cancers (new types of cancer)

Algunos efectos tardíos pueden tratarse o controlarse. Es importante hablar con los médicos de su hijo sobre los efectos que el tratamiento del cáncer puede tener en él. Más información sobre los efectos tardíos del tratamiento del cáncer infantil.

A veces se necesitan cuidados de seguimiento.

As your child goes through treatment, they will have follow-up tests or check-ups. Some of the tests that were done to diagnose the cancer may be repeated. Some tests will be repeated to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests.

Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your child's condition has changed or if the cancer has recurred (come back).

Resources and support are available to help you cope with your child's cancer.

Cuando su hijo tiene cáncer, todos los miembros de la familia necesitan apoyo. Cuidarse durante este momento difícil es importante. Póngase en contacto con el equipo de tratamiento de su hijo o hija, y con personas de su familia y comunidad para obtener apoyo. Para obtener más información, consulte Apoyo para familias: cáncer infantil y el folleto Niños con cáncer: una guía para padres.

Acerca del PDQ

El Physician Data Query (PDQ) es la base de datos integral sobre el cáncer del National Cancer Institute (NCI). La base de datos del PDQ contiene resúmenes con la última información publicada sobre prevención, detección, genética, tratamiento, atención médica de apoyo y medicina complementaria y alternativa relacionada con el cáncer. La mayoría de los resúmenes se redactan en dos versiones. Las versiones para profesionales de la salud contienen información detallada escrita en lenguaje técnico. Las versiones para pacientes están redactadas en un lenguaje fácil de entender y no tan técnico. Ambas versiones contienen información correcta y actualizada sobre el cáncer. La mayoría de las versiones también están disponibles en español.

El PDQ es un servicio del NCI. El NCI es parte de los Institutos Nacionales de Salud (NIH), que son el centro de investigación biomédica del gobierno federal. Los resúmenes del PDQ se basan en una revisión independiente de la literatura médica. No son declaraciones de políticas del NCI ni de los NIH.

Propósito de este resumen

This PDQ cancer information summary has current information about the treatment of childhood central nervous system atypical teratoid and rhabdoid tumor. It is meant to inform and help patients, families, and caregivers. It does not give formal guidelines or recommendations for making decisions about health care.

Revisores y actualizaciones

Los consejos editoriales escriben los resúmenes de información sobre el cáncer del PDQ y los mantienen actualizados. Estos consejos están conformados por equipos de especialistas en el tratamiento del cáncer y otras especialidades relacionadas con esta enfermedad. Los resúmenes se revisan periódicamente y se modifican cuando hay información nueva. La fecha de actualización al pie de cada resumen indica cuándo se realizó el cambio más reciente.

La información de este resumen para pacientes procede de la versión para profesionales de la salud, la cual el Consejo editorial del PDQ sobre el tratamiento pediátrico revisa y actualiza de forma periódica según sea necesario.

Información sobre ensayos clínicos

Un ensayo clínico es un estudio para responder a una pregunta científica, como por ejemplo si un tratamiento es mejor que otro. Los ensayos se basan en estudios anteriores y en lo aprendido en el laboratorio. Cada ensayo responde a determinadas preguntas científicas que permiten encontrar nuevas y mejores formas de ayudar a los pacientes con cáncer. Durante los ensayos clínicos de tratamiento, se recopila información sobre los efectos de un nuevo tratamiento y su eficacia. Si un ensayo clínico demuestra que un nuevo tratamiento es mejor que uno que se utiliza actualmente, el nuevo tratamiento puede convertirse en «estándar». Los pacientes pueden valorar la posibilidad de participar en un ensayo clínico. Algunos ensayos clínicos solo están abiertos a pacientes que no hayan iniciado el tratamiento.

Los ensayos clínicos se pueden encontrar en línea en el sitio web del NCI. Para obtener más información, llame al Servicio de Información sobre el Cáncer (CIS, por sus siglas en inglés), el centro de contacto del NCI, al 1-800-4-CANCER (1-800-422-6237).

Permiso de uso de este resumen

PDQ (Physician Data Query) es una marca registrada. Se autoriza el libre uso del contenido de los documentos del PDQ como texto. Sin embargo, no se podrá identificar como un resumen de información sobre cáncer del PDQ del NCI, salvo que se reproduzca en su totalidad y se actualice con regularidad. Por otra parte, se permite que los autores incluyan una oración como “en el resumen del PDQ del NCI sobre la prevención del cáncer de mama se describen, de manera concisa, los siguientes riesgos: [incluir fragmento del resumen]”.

La forma recomendada para citar este resumen del PDQ es:

PDQ® Pediatric Treatment Editorial Board. PDQ Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor Treatment. Bethesda, MD: National Cancer Institute. Updated <MM/DD/YYYY>. Available at: https://www.cancer.gov/types/brain/patient/child-cns-atrt-treatment-pdq. Accessed <MM/DD/YYYY>. [PMID: 26389341]

Las imágenes de este resumen se utilizan con el permiso del autor, artista y/o editorial para uso exclusivo en los resúmenes del PDQ. Si desea usar una imagen de un resumen del PDQ sin incluir el resumen completo, debe obtener autorización del propietario. El National Cancer Institute no puede otorgar dicho permiso. Para obtener más información sobre el uso de las imágenes de este resumen o de otras ilustraciones relacionadas con el cáncer, consulte Visuals Online, una colección de más de 3,000 imágenes científicas.

Descargo de responsabilidad

La información de estos resúmenes no debe utilizarse para tomar decisiones sobre reembolsos de seguros. Puede encontrar más información sobre la cobertura de seguros disponible en Cancer.gov en la página Manejo de la atención del cáncer.

Contáctenos

Puede encontrar más información sobre cómo contactarnos o recibir ayuda en el sitio web Cancer.gov en la página Comuníquese con el NCI. También puede enviar sus preguntas a Cancer.gov en el apartado Escríbanos del sitio web.