Atypical Teratoid Rhabdoid Tumor: Symptoms and Diagnosis

Written by Medicover Team and Medically Reviewed by Dr Neelesh Kanderi , Oncologists

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1. Causes 2. Find a Doctor 3. Diagnosis 4. Treatment 5. FAQs

Atypical Teratoid Rhabdoid Tumor (ATRT) is a rare and aggressive cancer that primarily affects the brain and spinal cord, most commonly in children younger than three years of age. It belongs to a group of central nervous system tumors and is known for its rapid growth and tendency to spread within the brain and spinal cord. ATRT can significantly affect a child's neurological function, development, and overall health, making early diagnosis and prompt treatment essential for improving outcomes.

What Are the Types of Atypical Teratoid Rhabdoid Tumor?

Atypical Teratoid Rhabdoid Tumor (ATRT) is classified into molecular subgroups based on its genetic and biological characteristics. These subgroups differ in their location within the brain, age at diagnosis, and response to treatment. Identifying the subtype helps doctors plan the most appropriate treatment strategy.

ATRT-TYR: This subtype commonly occurs in infants and young children. It is usually found in the lower part of the brain (posterior fossa) and is associated with genes involved in melanin production.
ATRT-SHH: This subtype is linked to the Sonic Hedgehog (SHH) signaling pathway. It can occur in both the upper and lower parts of the brain and is diagnosed across a wider age range.
ATRT-MYC: This subtype is generally seen in older children and is often located in the upper part of the brain (supratentorial region). It is associated with MYC gene activation and tends to behave more aggressively.

What Are the Symptoms of Atypical Teratoid Rhabdoid Tumor?

Atypical Teratoid Rhabdoid Tumor (ATRT) is a rare and aggressive childhood brain tumor. The symptoms vary depending on the location, size, and extent of the tumor. Since these symptoms are similar to those of other neurological conditions, early medical evaluation is important for timely diagnosis and treatment.

Persistent or severe headaches
Nausea and vomiting, especially in the morning
Vision problems such as blurred or double vision
Balance and coordination difficulties
Behavioral or personality changes
Weakness or numbness in the arms or legs
Seizures
Irritability, excessive sleepiness, or lethargy
Poor feeding or unexplained weight loss in infants
Developmental delay or loss of previously acquired developmental milestones

What Are the Causes of Atypical Teratoid Rhabdoid Tumor?

Atypical Teratoid Rhabdoid Tumor develops primarily due to genetic changes that affect the normal growth and division of cells. Most cases are associated with alterations in the SMARCB1 (INI1) gene, while a smaller number are linked to changes in the SMARCA4 gene. These mutations may occur spontaneously or, in rare cases, be inherited as part of rhabdoid tumor predisposition syndrome.

Mutations in the SMARCB1 (INI1) gene (most common)
Rare mutations in the SMARCA4 gene
Inherited rhabdoid tumor predisposition syndrome in a small number of patients
Most cases occur sporadically without a known family history

When Should You See a Doctor for Atypical Teratoid Rhabdoid Tumor?

A Pediatric Neuro-Oncologist specializes in diagnosing and treating Atypical Teratoid Rhabdoid Tumor (ATRT). Since this tumor grows rapidly, early diagnosis and immediate treatment are essential to improve outcomes.

You should see a doctor if your child has:

Persistent or worsening headaches accompanied by nausea or vomiting
Repeated vomiting without an obvious cause
Changes in vision, balance, or coordination
Frequent seizures or seizure-like episodes
Behavioral changes, excessive irritability, or unusual drowsiness
Weakness, numbness, or difficulty moving the arms or legs
Developmental delay or loss of previously acquired developmental milestones

Seek emergency medical attention if your child experiences:

Sudden seizures or loss of consciousness
Severe headache with repeated vomiting and increasing drowsiness
Rapid increase in head size or a bulging soft spot (fontanelle) in infants
Sudden inability to walk, speak, swallow, or move part of the body
Difficulty breathing or becoming unresponsive

These symptoms may indicate increased pressure within the brain or rapid tumor progression and require immediate medical evaluation.

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How Is Atypical Teratoid Rhabdoid Tumor Diagnosed?

Diagnosing Atypical Teratoid Rhabdoid Tumor (ATRT) involves a combination of neurological evaluation, advanced imaging studies, laboratory investigations, and tissue analysis. These tests help determine the tumor's location, extent, and genetic characteristics, allowing doctors to confirm the diagnosis and plan the most effective treatment.

MRI scan: The preferred imaging test for identifying the size, location, and spread of the tumor.
CT scan: May be performed initially, especially in emergency situations, to detect brain abnormalities.
Biopsy: A tissue sample is examined under a microscope to confirm ATRT.
Immunohistochemistry: Detects the loss of the INI1 (SMARCB1) protein, which is a hallmark feature of most ATRTs.
Genetic testing: Identifies mutations in the SMARCB1 or SMARCA4 genes.
Lumbar puncture: May be performed to examine the cerebrospinal fluid for evidence of tumor spread within the central nervous system.

What Is the Treatment for Atypical Teratoid Rhabdoid Tumor?

Atypical Teratoid Rhabdoid Tumor (ATRT) requires prompt and intensive treatment because it is a fast-growing and aggressive brain tumor. Treatment usually involves a combination of surgery, chemotherapy, and radiation therapy. The treatment plan depends on the child's age, the location and size of the tumor, and whether the cancer has spread.

Surgery: Surgery is usually the first step to remove as much of the tumor as safely possible while preserving normal brain function.
Chemotherapy: High-dose chemotherapy is commonly used after surgery to destroy remaining cancer cells and reduce the risk of recurrence.
Radiation therapy: Radiation therapy may be recommended after surgery, particularly in older children, to eliminate remaining tumor cells. In very young children, its use may be delayed or limited to reduce long-term side effects.
Targeted therapy: Targeted therapies are being studied to attack specific genetic changes within ATRT cells while minimizing damage to healthy tissue.
Stem cell rescue: Some children may receive high-dose chemotherapy followed by autologous stem cell transplantation to help restore healthy bone marrow.
Clinical trials: Participation in clinical trials may provide access to emerging therapies that could improve treatment outcomes for ATRT.

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What Are the Risk Factors of Atypical Teratoid Rhabdoid Tumor?

Atypical Teratoid Rhabdoid Tumor (ATRT) is a rare childhood brain tumor. Although the exact cause is not always known, certain genetic factors increase the likelihood of developing this condition.

Children younger than 3 years of age
Inherited mutations in the SMARCB1 (INI1) gene
Rare mutations in the SMARCA4 gene
Family history of rhabdoid tumor predisposition syndrome

What Are the Complications of Atypical Teratoid Rhabdoid Tumor?

Atypical Teratoid Rhabdoid Tumor (ATRT) is an aggressive brain tumor that can lead to serious complications due to the tumor itself or its treatment. Early diagnosis and appropriate management help reduce the risk of long-term complications.

Increased pressure inside the brain (raised intracranial pressure)
Hydrocephalus (buildup of cerebrospinal fluid in the brain)
Seizures
Neurological deficits such as weakness, balance problems, or vision loss
Developmental delay or learning difficulties
Hormonal or endocrine disorders following treatment
Tumor recurrence or spread within the brain and spinal cord
Long-term side effects from chemotherapy or radiation therapy

Can Atypical Teratoid Rhabdoid Tumor Be Prevented?

There is currently no known way to prevent Atypical Teratoid Rhabdoid Tumor because it is primarily caused by genetic mutations that occur spontaneously or are inherited in rare cases. However, early recognition of symptoms and genetic counseling for families with inherited rhabdoid tumor predisposition syndrome may help with early diagnosis and management.

There are no proven methods to prevent ATRT.
Seek prompt medical evaluation if a child develops persistent neurological symptoms.
Families with a history of rhabdoid tumor predisposition syndrome may benefit from genetic counseling and testing.
Regular follow-up is important for children with inherited genetic mutations associated with ATRT.

What Is the Recovery Process for Atypical Teratoid Rhabdoid Tumor?

Recovery from Atypical Teratoid Rhabdoid Tumor depends on several factors, including the child's age, the size and location of the tumor, the extent of surgical removal, and the response to chemotherapy or radiation therapy. Recovery often requires long-term follow-up and supportive rehabilitation.

Attend all scheduled follow-up appointments to monitor for tumor recurrence.
Complete the full course of chemotherapy, radiation therapy, or other recommended treatments.
Participate in physical, occupational, and speech therapy if neurological deficits are present.
Maintain a nutritious diet and adequate hydration to support healing.
Monitor developmental progress and learning abilities through regular assessments.
Provide emotional and psychological support for both the child and family.
Seek immediate medical attention if new neurological symptoms, seizures, persistent headaches, or vomiting develop.