Rhabdoid Tumors: Symptoms, Causes, Diagnosis and Treatment

Written by Medicover Team and Medically Reviewed by Dr Kovvuru Bhaskar Reddy , Oncologists

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

Rhabdoid tumors are rare and aggressive cancers that primarily affect infants and young children, although they can also occur in older children and adults. These tumors can develop in the brain, spinal cord, kidneys and other soft tissues of the body.

Rhabdoid tumors were first identified as a distinct type of cancer in the 1980s. They are known for growing and spreading quickly, making early diagnosis and prompt treatment important. A multidisciplinary medical team is usually required to manage the disease effectively.

What Are the Types of Rhabdoid Tumors?

Rhabdoid tumors are classified according to the part of the body where they develop. The two main types are atypical teratoid/rhabdoid tumors and malignant rhabdoid tumors.

Atypical Teratoid/Rhabdoid Tumor (AT/RT)

AT/RT develops in the central nervous system, particularly the brain and spinal cord. It is most common in children younger than 3 years but can also occur in older children and adults.

Malignant Rhabdoid Tumor (MRT)

Malignant rhabdoid tumors commonly develop in the kidneys and are sometimes called rhabdoid tumors of the kidney. They can also occur in other soft tissues and predominantly affect young children.

What Are the Symptoms of Rhabdoid Tumors?

The symptoms of rhabdoid tumors depend on the location, size and extent of the cancer. Tumors affecting the brain or spinal cord may cause neurological symptoms, while kidney or soft tissue tumors may cause abdominal or local symptoms.

Central Nervous System Symptoms

Headaches: Persistent or severe headaches may occur, sometimes with nausea or vomiting.
Neurological problems: Seizures, behavioural changes or problems with movement may develop.
Increased pressure in the brain: This may cause blurred vision, balance problems or persistent vomiting.

Kidney and Soft Tissue Symptoms

Abdominal mass: A noticeable lump or swelling may develop in the abdomen.
Hematuria: Blood may appear in the urine, particularly when the tumor affects the kidney.
Pain and swelling: Localised pain or swelling may occur in the affected area.
Fever: Some children may develop an unexplained or persistent fever.
Loss of appetite: Reduced appetite and unexplained weight loss may occur as the disease progresses.

What Causes Rhabdoid Tumors?

The exact cause of rhabdoid tumors is not completely understood. However, most cases are associated with genetic changes that affect genes responsible for controlling normal cell growth.

SMARCB1 Gene Changes

Most rhabdoid tumors are associated with alterations, mutations or deletions in the SMARCB1 gene, also known as the INI1 gene, on chromosome 22. This gene normally acts as a tumor suppressor and helps prevent cells from growing uncontrollably.

When the SMARCB1 gene does not function properly, cells may divide rapidly and form a tumor. In a smaller number of cases, changes in another gene called SMARCA4 may be involved.

Genetic Predisposition

Most genetic changes associated with rhabdoid tumors occur spontaneously and are not inherited. However, rare familial cases can occur as part of rhabdoid tumor predisposition syndrome.

Genetic counselling and testing may be recommended for affected children and their families, particularly when tumors occur at a very young age, develop in multiple locations or there is a family history of rhabdoid tumors.

When to See a Doctor for Rhabdoid Tumors?

Medical evaluation is important if a child develops persistent neurological symptoms, an unexplained abdominal mass or other concerning changes. Because rhabdoid tumors can grow rapidly, early assessment can help identify the cause and allow treatment to begin promptly.

You should see a doctor if you have:

Persistent headaches, vomiting or unexplained behavioural changes
An abdominal lump, swelling or blood in the urine
Ongoing pain, weakness or unexplained weight loss

Get medical help immediately if:

A seizure, loss of consciousness or sudden neurological problem occurs
Severe headache develops with repeated vomiting or vision changes
A child develops serious weakness, breathing difficulty or rapid deterioration

These could be signs of a serious complication like a rhabdoid tumor, which needs urgent care.

Rhabdoid tumors are usually treated by an oncologist. Depending on the tumor location, the care team may also include a pediatric neurosurgeon, surgical oncologist, radiation oncologist, neurologist, genetic counsellor and rehabilitation specialists.

No doctors found for Rhabdoid Tumor in any location.

How Are Rhabdoid Tumors Diagnosed?

Diagnosing rhabdoid tumors usually involves imaging tests, a biopsy and specialised laboratory or genetic testing. These methods help confirm the diagnosis and determine the tumor's location and extent.

Imaging Tests

MRI: Provides detailed images of the brain, spinal cord and soft tissues and helps determine the tumor's size and location.
CT scan: Helps identify tumors and assess whether the disease has affected nearby structures.
Ultrasound: May be used to examine abdominal or kidney masses, particularly in young children.

Biopsy and Histological Examination

A biopsy involves removing a small sample of tumor tissue for examination under a microscope. Pathologists look for characteristic rhabdoid cells and perform specialised tests to identify the loss of SMARCB1/INI1 protein expression.

Genetic and Molecular Testing

Genetic testing may identify changes in the SMARCB1 or SMARCA4 genes. These findings can support the diagnosis and help determine whether the child has an inherited predisposition to rhabdoid tumors.

Tests to Check for Cancer Spread

Additional imaging or laboratory tests may be performed to determine whether the tumor has spread to other parts of the body. The specific tests depend on the location and type of rhabdoid tumor.

How Are Rhabdoid Tumors Treated?

Rhabdoid tumors are difficult to treat because they tend to grow and spread rapidly. Treatment usually involves a combination of surgery, chemotherapy and radiation therapy based on the patient's age, tumor location and extent of the disease.

Surgery

Surgical removal is often an important part of treatment. The goal is to remove as much of the tumor as safely possible. Complete removal may not always be possible when the tumor involves critical structures in the brain, spinal cord or other organs.

Chemotherapy

Chemotherapy is commonly used after surgery or as part of a combined treatment plan. Treatment may include medicines such as vincristine, cyclophosphamide and doxorubicin.

The specific chemotherapy regimen depends on the patient's age, tumor location and overall health.

Radiation Therapy

Radiation therapy may be used to control remaining cancer cells and reduce the risk of recurrence. Its use is carefully considered in very young children because radiation can cause long-term effects on the developing brain and other tissues.

Targeted Therapy

Targeted treatments aim to interfere with specific molecular pathways involved in tumor growth. These therapies are being studied to improve outcomes and reduce treatment-related side effects.

Clinical Trials

Because rhabdoid tumors are rare and difficult to treat, participation in clinical trials may provide access to newer therapies and treatment combinations that are still being studied.

Supportive Care

Supportive care may include pain management, nutritional support, rehabilitation and treatment of complications caused by the tumor or cancer therapy.

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What Is the Prognosis for Rhabdoid Tumors?

The prognosis for rhabdoid tumors depends on several factors, including the patient's age, tumor location, extent of the disease and whether complete surgical removal is possible.

These tumors are aggressive and may have a higher risk of recurrence or spread than many other childhood cancers. However, advances in intensive treatment approaches, molecular testing and clinical research continue to improve the understanding and management of the disease.

Why Is Long-Term Follow-Up Important After Rhabdoid Tumor Treatment?

Long-term follow-up is essential to detect recurrence, monitor treatment-related side effects and support the child's development and overall health.

Regular imaging tests to check for tumor recurrence
Neurological and developmental assessments
Monitoring for long-term effects of chemotherapy or radiation therapy
Physical, occupational or speech therapy when needed
Genetic counselling for affected children and their families

Frequently Asked Questions

1. What are the symptoms of a Rhabdoid Tumor?

Symptoms may include abdominal pain, swelling, and neurological symptoms, depending on tumor location and involvement.

2. What causes Rhabdoid Tumors?

Rhabdoid tumors are aggressive cancers that typically arise in soft tissues or the kidneys, often linked to genetic mutations affecting tumor suppression.