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Genetic and Rare Diseases Information Center (GARD)

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Rhabdoid tumor


Other Names for this Disease
  • ATRT
  • Atypical teratoid rhabdoid tumor
  • BRAIN TUMOR, POSTERIOR FOSSA, OF INFANCY, FAMILIAL
  • Malignant rhabdoid tumor
  • Rhabdoid sarcoma
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Overview

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, abdomen mass, peripheral nerve palsy). In about 90% of the cases it is caused by a mutation in the SMARCB1 gene, which is a tumor suppressor gene and in rare cases by a mutation in the SMARCA4 gene. No standard care exists for RT although there are a lot of 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 considered now identical or closely related entities. Also, 10-15% of patients with malignant rhabdoid tumors have brain tumors.[1]
Last updated: 4/24/2015

References

  1. Geller JI. Malignant Rhabdoid Tumor. Medscape Reference. December 5, 2014; http://emedicine.medscape.com/article/993084-overview. Accessed 4/24/2015.
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In Depth Information

  • 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.
    Orphanet
    Orphanet
Other Names for this Disease
  • ATRT
  • Atypical teratoid rhabdoid tumor
  • BRAIN TUMOR, POSTERIOR FOSSA, OF INFANCY, FAMILIAL
  • Malignant rhabdoid tumor
  • Rhabdoid sarcoma
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.