How Does Rhabdoid Tumor Predisposition Syndrome Increase Cancer Risk?

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 tumor predisposition syndrome (RTPS) is a rare genetic condition that increases the risk of developing aggressive cancers known as rhabdoid tumors. These tumors most often develop in infants and young children and can affect the brain, kidneys, soft tissues and other parts of the body.

The condition is usually associated with inherited or newly occurring genetic changes that affect proteins responsible for controlling cell growth. Because tumors may develop at a young age and can grow rapidly, early genetic evaluation, regular surveillance and specialised medical care are important.

What Are the Types of Rhabdoid Tumor Predisposition Syndrome?

Rhabdoid tumor predisposition syndrome is mainly classified according to the gene affected. The two recognised genetic types are associated with changes in the SMARCB1 or SMARCA4 genes.

Rhabdoid Tumor Predisposition Syndrome Type 1 (RTPS1): This type is caused by a germline mutation in the SMARCB1 gene, also known as INI1. It increases the risk of rhabdoid tumors affecting the brain, kidneys, soft tissues and other organs.
Rhabdoid Tumor Predisposition Syndrome Type 2 (RTPS2): This type is caused by a germline mutation in the SMARCA4 gene, also known as BRG1. It is associated with an increased risk of rhabdoid tumors and certain other tumors.

Genetic testing is important for identifying the specific gene mutation, assessing risks for family members and planning appropriate tumor surveillance.

What Are the Symptoms of Rhabdoid Tumor Predisposition Syndrome?

Rhabdoid tumor predisposition syndrome itself may not cause symptoms until a tumor develops. Symptoms vary depending on the tumor's location, size and the organs affected.

Developmental delays
Intellectual disability
Behavioural changes
Seizures
Vision problems
Hearing loss
Abdominal swelling or a noticeable mass
Blood in the urine when the kidneys are affected
Neurological symptoms when a tumor develops in the brain
Susceptibility to multiple or recurrent tumors

Symptoms in infants and young children can progress quickly. Any persistent or unexplained neurological, abdominal or developmental changes require medical evaluation.

What Causes Rhabdoid Tumor Predisposition Syndrome?

Rhabdoid tumor predisposition syndrome is caused by genetic mutations that affect genes responsible for regulating cell growth and suppressing tumor formation. The most important genes involved are SMARCB1 and SMARCA4.

SMARCB1 Gene Mutation

Most cases of RTPS are associated with mutations in the SMARCB1 gene, also known as INI1. This gene normally helps prevent uncontrolled cell growth. When it does not function properly, cells may divide rapidly and form rhabdoid tumors.

SMARCA4 Gene Mutation

Some cases are caused by mutations in the SMARCA4 gene. Like SMARCB1, this gene helps regulate how cells grow and develop. Harmful mutations can increase susceptibility to aggressive tumors.

Inherited Genetic Mutations

A genetic mutation may be inherited from a parent who carries the altered gene. A parent may carry the mutation even without having developed a rhabdoid tumor.

New Genetic Mutations

In some individuals, the genetic change occurs for the first time in the egg, sperm or developing embryo. In these cases, there may be no previous family history of the syndrome.

When to See a Doctor for Rhabdoid Tumor Predisposition Syndrome?

Medical evaluation is important when a child develops unexplained neurological symptoms, an abdominal mass or signs of a rapidly growing tumor. Families with a history of rhabdoid tumors should also seek genetic counselling to assess inherited risks and appropriate surveillance.

You should see a doctor if you have:

A family history of rhabdoid tumors or a known SMARCB1 or SMARCA4 mutation
A child with unexplained developmental, neurological or abdominal symptoms
Concerns about inherited cancer risk before planning a pregnancy

Get medical help immediately if:

A child develops seizures, severe weakness or sudden neurological changes
There is a rapidly enlarging abdominal mass or severe abdominal swelling
A child develops breathing difficulty, loss of consciousness or severe deterioration

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

Care usually involves an oncologist and a clinical geneticist or genetic counsellor. Depending on the tumor's location, treatment may also involve a neurosurgeon, pediatric surgeon, radiation oncologist and other specialists.

No doctors found for Rhabdoid Tumor Predisposition Syndrome in any location.

How Is Rhabdoid Tumor Predisposition Syndrome Diagnosed?

Rhabdoid tumor predisposition syndrome is diagnosed by reviewing symptoms, personal and family history, tumor characteristics and genetic test results. A specialist in genetic disorders can help assess the likelihood of an inherited cancer predisposition.

Genetic Testing

Genetic testing can identify disease-causing mutations in genes such as SMARCB1 and SMARCA4. Testing may be recommended for individuals with rhabdoid tumors and, when appropriate, their family members.

Imaging Studies

MRI, CT scans or ultrasounds may be used to detect tumors in the brain, kidneys and other organs.

Biopsy

A Biopsy involves removing a tissue sample from a suspected tumor for examination. Pathology and molecular tests help confirm whether the growth is a rhabdoid tumor.

Family History Assessment

Doctors review the family history for rhabdoid tumors, schwannomas and other related cancers. This information can help determine whether genetic testing should be offered to relatives.

How Is Rhabdoid Tumor Predisposition Syndrome Treated?

There is no single treatment that removes the inherited genetic predisposition. Treatment focuses on managing any tumors that develop and monitoring affected individuals for new tumors. Care requires a multidisciplinary team and an individualised treatment plan.

Surgery

Surgery may be performed to remove as much of the tumor as safely possible. The surgical approach depends on the tumor's location, size and involvement of nearby structures.

Chemotherapy

Chemotherapy may be used to destroy cancer cells, shrink tumors before surgery or treat cancer cells that remain after surgery.

Radiation Therapy

Radiation therapy uses high-energy beams to destroy cancer cells. Its use depends on the child's age, tumor location and other treatment considerations.

Stem Cell Transplant

In selected cases, a stem cell transplant may be considered after high-dose chemotherapy to help restore healthy blood-forming cells.

Clinical Trials

Participation in clinical trials may provide access to new treatment approaches, including targeted therapies for tumors that do not respond adequately to standard treatment.

Regular Tumor Surveillance

Children and adults with a confirmed genetic predisposition may require regular imaging and specialist follow-up. Surveillance plans are personalised according to the affected gene, age and family history.

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How Is Rhabdoid Tumor Predisposition Syndrome Inherited?

Rhabdoid tumor predisposition syndrome is generally inherited in an autosomal dominant pattern. This means that one altered copy of the affected gene can increase the risk of developing tumors.

How Can RTPS Be Inherited from a Parent?

If a parent carries a disease-causing mutation, each child has a 50% chance of inheriting the altered gene. However, inheriting the mutation does not mean that every individual will develop the same type of tumor or develop cancer at the same age.

Can RTPS Occur Due to a New Mutation?

Yes. In many cases, RTPS develops because of a new genetic mutation that occurs in the sperm, egg or developing embryo. The affected individual may be the first person in the family to have the condition.

Some individuals may have a larger DNA deletion that includes the affected gene and nearby genes. Depending on the genes involved, this may be associated with additional features such as birth abnormalities, developmental delays or intellectual disability.

What Are the Risk Factors for Rhabdoid Tumors?

The main risk factors for rhabdoid tumors are inherited or newly occurring genetic mutations that affect tumor-suppressor genes. Early identification of these factors can help guide genetic counselling and tumor surveillance.

Genetic predisposition: Inherited mutations can increase susceptibility to rhabdoid tumors.
Family history of rhabdoid tumors: A close relative with a rhabdoid tumor may indicate an inherited genetic risk.
Germline mutation in the SMARCB1 gene: This is the most common genetic abnormality associated with RTPS.
Germline mutation in the SMARCA4 gene: This mutation is associated with another form of rhabdoid tumor predisposition.
Young age: Rhabdoid tumors most commonly develop in infancy and early childhood.
Previous rhabdoid tumor: Affected individuals may require monitoring for additional or recurrent tumors.

What Prenatal Genetic Testing Options Are Available for Families with RTPS?

Individuals with a known RTPS-related genetic mutation who are concerned about passing it to their children can discuss reproductive options with a genetic counsellor. Testing is possible when the specific disease-causing mutation in the family is known.

What Is Prenatal Diagnosis for RTPS?

Prenatal diagnosis can test fetal DNA for a known familial mutation. Testing may be performed through chorionic villus sampling (CVS) or amniocentesis. Genetic counselling helps families understand the benefits, limitations and possible results of testing.

What Is Preimplantation Genetic Testing for RTPS?

For individuals using in vitro fertilisation (IVF), embryos may be tested for the known familial mutation before transfer to the uterus. Embryos without the identified mutation may then be considered for transfer.

Frequently Asked Questions

1. What are the symptoms of a rhabdoid tumor in a baby?

Symptoms of rhabdoid tumors in babies may include swelling or a lump in the abdomen, unexplained pain, vomiting, or difficulty breathing. These tumors often present rapidly, causing significant distress. Early diagnosis is crucial for effective management.

2. What is the survival rate of rhabdoid tumors?

The survival rate for rhabdoid tumors can vary based on factors like tumor location, size, and stage at diagnosis. Treatment advances have improved outcomes, but the prognosis can remain challenging due to the aggressive nature of the tumor.

3. What are rhabdoid features?

Rhabdoid features typically involve large, irregular-shaped tumor cells with a distinct appearance under a microscope. These tumors are highly aggressive and often infiltrate surrounding tissues, making them difficult to treat.

4. What mutations are in rhabdoid tumors?

Rhabdoid tumors commonly involve mutations in the SMARCB1 gene, also known as the INI1 gene. This gene plays a role in regulating tumor growth, and its loss leads to the formation of rhabdoid tumors.

5. What is Rhabdoid tumor predisposition syndrome type 2?

Rhabdoid tumor predisposition syndrome type 2 is a genetic condition that increases the risk of developing rhabdoid tumors. It involves mutations in the SMARCB1 gene, leading to an increased likelihood of these aggressive tumors in children.