Rhabdoid tumor

Alternate names

Rhabdoid sarcoma; Malignant rhabdoid tumor; RHABDOID TUMOR PREDISPOSITION SYNDROME 1; BRAIN TUMOR, POSTERIOR FOSSA, OF INFANCY, FAMILIAL; Rhabdoid tumor predisposition syndrome 2; Atypical teratoid rhabdoid tumor

Definition

Rhabdoid tumor (RT) is an aggressive pediatric soft tissue sarcoma that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. RT involving the central nervous system (CNS) is called atypical teratoid rhabdoid tumor.

Cause

• In about 90% of cases it is caused by a mutation in the SMARCB1 gene, which is a tumor suppressor gene.
• This gene normally signals proteins to stop tumor growth.
• But in ATRTs, SMARCB1 doesn’t function properly and tumor growth is uncontrolled.
• SMARCB1 can sometimes be found in a person’s DNA, which means they are born with it.
• In rare cases, it may be caused by a mutation in the SMARCA4 gene.

Onset

RT usually occurs in infancy or childhood.

Signs and symptoms

In most cases, the first symptoms are linked to the compressive effects of a bulky tumor (such as respiratory distress, abdominal mass, peripheral nerve palsy).

Symptoms related to an ATRT depend on the tumor’s location and the person’s age. Here are some possible symptoms that can occur. ATRT Symptoms

• Morning headaches
• Vomiting
• Changes in activity levels
• Loss of balance
• Increase in head size (in infants)

Diagnosis

• To get an accurate diagnosis, a piece of tumor tissue will be removed during surgery, if possible.
• A neuropathologist should then review the tumor tissue.

Treatment

• No standard care exists for RT, although there are many ongoing studies.
• Treatment includes resection of the tumor mass and chemotherapy and radiotherapy.
• Because atypical teratoid rhabdoid tumors and rhabdoid tumors of the kidney have the same gene mutation and similar biopsy findings, they are now considered identical or closely related entities.
• Also, 10-15% of patients with malignant rhabdoid tumors have brain tumors.
• The first treatment for an ATRT is surgery, if possible.
• The goal of surgery is to obtain tissue to determine the tumor type and to remove as much tumor as possible without causing more symptoms for the person.
• People with ATRTs usually receive further treatments after surgery, which may include radiation, chemotherapy or clinical trials.
• Clinical trials, with new chemotherapy, targeted therapy, or immunotherapy drugs, may also be available and can be a possible treatment option.
• Treatments are decided by the patient’s healthcare team based on the patient’s age, remaining tumor after surgery, tumor type, and tumor location.

NIH genetic and rare disease info

• NIH info on Rhabdoid tumor

Rhabdoid tumor is a rare disease.

Rhabdoid tumor Resources
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