National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Rhabdoid tumor


Other Names:
Rhabdoid sarcoma; Malignant rhabdoid tumor; RHABDOID TUMOR PREDISPOSITION SYNDROME 1; 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 See More
Categories:
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. RT usually occurs in infancy or childhood. 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). In about 90% of cases it is caused by a mutation in the SMARCB1 gene, which is a tumor suppressor gene. In rare cases, it may be caused by a mutation in the SMARCA4 gene. 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.[1]
Last updated: 4/24/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain
[ more ] 		0002027
Cerebral palsy 0100021
Cranial nerve paralysis 0006824
Fever 0001945
Headache
Headaches
0002315
Hematuria
Blood in urine
0000790
Hypertension 0000822
Internal hemorrhage
Internal bleeding
0011029
Irritability
Irritable
0000737
Lymphadenopathy
Swollen lymph nodes
0002716
Nausea and vomiting 0002017
Neoplasm of the central nervous system
Tumors of the central nervous system
0100006
Neoplasm of the liver
Liver cancer
Liver tumor
[ more ] 		0002896
Oculomotor nerve palsy 0012246
Poor appetite
Decreased appetite
0004396
Renal neoplasm
Renal tumors
0009726
Respiratory insufficiency
Respiratory impairment
0002093
Sarcoma
Cancer of connective tissue
Malignant connective tissue tumor
[ more ] 		0100242
Subcutaneous nodule
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ] 		0001482
Weight loss 0001824
5%-29% of people have these symptoms
Anemia
Low number of red blood cells or hemoglobin
0001903
Hemiplegia
Paralysis on one side of body
0002301
Hypercalcemia
High blood calcium levels
Increased calcium in blood
[ more ] 		0003072
Thrombocytopenia
Low platelet count
0001873
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Carcinoma 0030731
Choroid plexus carcinoma 0030392
Medulloblastoma 0002885
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes all undifferentiated sarcomas, peripheral primitive neuroectodermal tumor in children, epithelioid sarcoma (especially the proximal type) in older patients, extraskeletal myxoid chondrosarcoma, and undifferentiated chordomas (see these terms) in cases with clivus involvement.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Rhabdoid tumor. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
    Online Mendelian Inheritance in Man (OMIM)
    Online Mendelian Inheritance in Man (OMIM)
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Geller JI. Malignant Rhabdoid Tumor. Medscape Reference. December 5, 2014; http://emedicine.medscape.com/article/993084-overview.