Atypical teratoid rhabdoid tumor (ATRT)

Diagnósticos

ATRT is diagnosed using exams, imaging and lab tests that look for changes in the tumor's cells and genes. Because this tumor grows quickly, getting an accurate diagnosis early is important.

Diagnosis usually begins with a medical history and physical exam. The care team reviews symptoms, medical history and family history. A neurological examination checks vision, hearing, balance, coordination, reflexes and strength to see how the brain and spinal cord are working.

Tests and procedures may include:

• Brain MRI. MRI uses magnets and radio waves to make detailed pictures of the tumor's size, shape and location. An MRI may be done on the brain or the spine. An MRI with contrast helps show how the tumor interacts with nearby tissue.
• Brain CT. CT may be used if MRI is not available or to check for bone changes.
• Biopsy. A small sample of tumor tissue is removed with a needle biopsy or during surgery. Pathologists study the cells under a microscope to confirm ATRT. They also run molecular tests and determine the tumor grade. ATRT is always grade 4, which means it grows quickly and is considered aggressive. Grading happens in the lab as part of tissue analysis, not through a separate test.
• Lumbar puncture. This test is done after diagnosis to help stage the tumor. During the test, a needle is used to take a sample of cerebrospinal fluid between the bones of the spine. These bones are called vertebrae. The fluid is then studied in a lab to see whether the tumor has spread through the cerebrospinal fluid.
• Surgical resection. For many children, surgery is the first step instead of doing a separate needle biopsy. Imaging can strongly suggest ATRT, and when the tumor’s size and location make surgery possible, the team may go straight to removing the tumor. The tissue taken out during surgery is then studied in the lab to confirm ATRT. It also goes through molecular testing, which looks for changes in the tumor’s genes that help guide care.

Because imaging test results for ATRT can look like those of other brain tumors, healthcare professionals often use pathology to make a clear diagnosis. Pathology means studying a small sample of the tumor under a microscope and running special tests to look at the tumor's cells and their features. These tests show whether ATRT is present and help the care team understand how the tumor behaves.

Once ATRT is confirmed, the care team stages the tumor and discusses treatment options.

Tratamientos

Treatment for ATRT usually includes several steps. The plan depends on the child's age, tumor location and whether the cancer has spread. Because ATRT grows quickly, treatment often starts soon after diagnosis.

Children with ATRT are often treated at specialty centers with experience in pediatric brain tumors. Care teams often include experts in neurosurgery, oncology, radiation therapy, rehabilitation and genetics.

Surgery or other procedures

Brain tumor surgery is usually the first step in treating ATRT. The goal is to take out as much tumor as safely possible without harming nearby brain tissue.

Most children have a craniotomy for tumor removal. Complete removal may not always be possible if the tumor is near vital areas that control breathing, movement or vision.

MRI after surgery

After surgery, imaging is used to see how much of the tumor remains. Usually, this is an MRI. If there is fluid buildup on the brain, also called hydrocephalus, a temporary or permanent brain shunt may be placed to drain extra fluid. A shunt is a small tube that helps move fluid from the brain to another part of the body where it can be absorbed.

Even with surgery, most children need more treatments to destroy remaining tumor cells and reduce the risk of the cancer coming back, also called recurrence.

Medicines

Most children with ATRT receive chemotherapy after surgery. Chemotherapy uses strong medicines to kill cancer cells or stop them from growing. These medicines travel through the bloodstream to reach cells that surgery cannot take out.

Many treatment plans use several medicines together in cycles. Common medicines include cisplatin, cyclophosphamide, etoposide and vincristine. High-dose chemotherapy followed by a stem cell rescue may be used for some children, especially infants, to delay or reduce the need for radiation.

Some children also may receive medicines directly into the fluid around the brain and spinal cord. This is called intrathecal chemotherapy. It helps target any tumor cells that have spread through that fluid.

Chemotherapy can cause side effects such as tiredness, nausea and low blood counts. Care teams monitor children closely and adjust doses as needed to protect healthy cells.

Therapies

Therapies for ATRT often include radiation and other treatments that help manage symptoms or side effects. The type and timing of therapy depend on the child's age and whether the cancer has spread.

Radiation therapy uses high-energy beams to destroy tumor cells. Older children and teens may receive radiation to the tumor site or, if the cancer has spread, to the brain and spinal cord. Because radiation can affect the developing brain, care teams may delay or avoid it in babies and toddlers.

Most treatment centers use proton beam therapy, which can focus radiation more precisely on the tumor and limit exposure to nearby healthy tissue. This can help reduce long-term effects on thinking, learning and growth. Proton therapy is available only at specialized centers. It may be recommended when precise targeting can reduce long-term side effects.

Rehabilitation therapy may help children recover strength, balance and coordination after surgery or radiation. Physical, occupational and speech therapy can support recovery and improve daily functioning.

Children often receive supportive therapies during and after treatment. These may include nutritional support, hearing checks, hormone testing or cognitive evaluations to monitor for late effects. Emotional and social support also are key parts of care.

Potential future treatments

Researchers are studying new medicines that target the genes and cell pathways involved in ATRT. These treatments may help when standard therapies stop working or cannot be used.

One example is tazemetostat. It is a targeted medicine that blocks a protein called EZH2. This protein helps tumor cells grow. By turning off this protein, tazemetostat may slow or stop tumor growth in cancers that have changes in the SMARCB1 gene.

Tazemetostat is still being studied in clinical trials for children and adults with ATRT and other rare tumors. It is not yet a standard treatment but may become an option in the future as research continues.

Other studies are testing new chemotherapy combinations, immune-based treatments and drugs that target the genetic drivers of ATRT.

Researchers also are testing immunotherapy, such as checkpoint inhibitors and chimeric antigen receptor (CAR-T) cell therapy, and virus-based treatments in clinical trials. These approaches are experimental and available only through studies.

Medicina alternativa

There are no alternative medicines proved to treat or cure ATRT. Families who want to try natural or home remedies should talk with their care teams before starting these treatments. Some products and supplements can interfere with cancer medicines or cause side effects.

Complementary and integrative therapies may help children and families cope with treatment and recovery. These approaches work best when used with, not instead of, medical care. They can reduce stress, improve mood and support overall well-being.

Examples include:

• Music or art therapy to help children express feelings or lessen anxiety.
• Relaxation or breathing exercises to improve sleep and ease tension.
• Massage or gentle movement therapy for comfort and relaxation, if approved by the care team.
• Nutritional support to help maintain energy and strength during treatment. Nutrition support means working with a dietitian to plan meals or use special drinks or feeding formulas that meet a child's needs when eating is difficult.

Families should always tell the care team about any vitamins, herbs or supplements they plan to use. These therapies are safest and most helpful when part of an integrative care plan that supports both physical and emotional health.

Integrative care programs, such as art or music therapy and family counseling, are offered at many children's cancer centers to support emotional and physical healing.

Modo de vida y remedios caseros

While there are no home treatments for ATRT, families can take steps at home to support recovery and well-being during and after treatment. These steps work best when combined with the care team's plan.

• Healthy routines can help children regain strength. Offer small, nutritious meals and snacks to keep up energy. Encourage rest and gentle activity as advised by the care team. Make sure to take medicines as directed. Follow all care instructions at home.
• Emotional support also is important. Children may feel scared or frustrated during treatment. Reading, art and music can provide comfort and help with coping. Parents and caregivers also may benefit from counseling or support groups.
• Follow-up care helps track recovery and detect any new issues early. Regular appointments, imaging and lab tests are important even after treatment ends.

Contact the care team with any new symptoms, side effects or emotional concerns. Early communication helps manage concerns quickly and keeps treatment on track.

Many hospitals offer survivorship programs, rehabilitation or counseling to help families adjust after treatment and to support long-term recovery.

Estrategias de afrontamiento y apoyo

An ATRT diagnosis affects the whole family. Treatment can be stressful, and it's common to feel anxious, sad or overwhelmed. Support from the care team and from others who understand can make a difference.

• Stay connected with your care team. Ask the care team all of your questions. And write down questions for the care team between visits. Understanding the plan and what to expect can help families feel more in control.
• Seek emotional and practical support. Many cancer centers have child life specialists, social workers and counselors who can help with emotional needs, daily stress or financial concerns. Support groups, both online and in person, can connect families with others facing similar experiences.
• Take care of yourself. Parents and caregivers need rest, healthy food and breaks to manage stress. Accepting help from friends, family or community resources can make long treatment periods easier.
• Use supportive programs. Activities such as art, music or relaxation therapy can help children cope with hospital stays and treatment routines. Many hospitals offer these services through integrative medicine or child life programs.

Living with ATRT may feel difficult, but support, communication and connection can help you find strength and hope throughout treatment and recovery.

Preparación para la consulta

See your child's doctor or other healthcare professional if your child has any symptoms that worry you. If ATRT is suspected, ask for a referral to an experienced specialist in pediatric brain tumors.

Consider taking a family member or friend along to the appointment to help remember all the information provided.

Here's some information to help you and your child get ready for the appointment.

What you can do

Before your child's appointment, make a list of:

• Symptoms, including any that do not seem related to the reason for the appointment.
• Any medicines that your child is taking. Include vitamins, herbs and medicines you buy without a prescription and their dosages.
• Key personal information, including any major stresses or recent changes in your child's life.
• Questions to ask your child's healthcare team to make the most of your time.

For ATRT, some basic questions to ask include:

• Where is the brain tumor located? How large is it?
• How aggressive is the brain tumor?
• Is the brain tumor cancerous?
• Will my child need additional tests?
• What are the treatment options?
• What are the benefits and risks of each treatment?
• Can any treatments cure my child's brain tumor?
• Is there one treatment you feel is best for my child?
• Should my child see other specialists? What will that cost, and will my insurance cover it?
• Are there brochures or other printed material that I can have? What websites do you recommend?

Don't hesitate to ask other questions you have.

What to expect from your doctor

Be prepared to answer some questions about your child's medical history and symptoms. These might include:

• When did your child first begin experiencing symptoms?
• Do the symptoms happen all the time or do they come and go?
• How severe are the symptoms?
• What, if anything, seems to make your child's symptoms better?
• What, if anything, appears to worsen the symptoms?