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Genetics and Genomics of Malignant Rhabdoid Tumours

  1. Darmood Wei,
  2. Bernard E Weissman

Published Online: 17 MAR 2014

DOI: 10.1002/9780470015902.a0025012



How to Cite

Wei, D. and Weissman, B. E. 2014. Genetics and Genomics of Malignant Rhabdoid Tumours. eLS. .

Author Information

  1. University of North Carolina, Chapel Hill, North Carolina, USA

Publication History

  1. Published Online: 17 MAR 2014


Malignant rhabdoid tumours (MRTs) represent an aggressive paediatric cancer with limited treatment options. Although MRTs mainly arise in the kidney and brain of patients under the age of 8 years, they may appear in other major organs as well as in soft tissues. Remarkably, these tumours possess few mutations other than the ones that inactivate the SNF5/INI1 gene, the smallest member of the SWI/SNF chromatin-remodelling complex. In addition, these cancers lack other hallmarks of adult malignancies including genomic instability, aberrant karyotypes and abnormal regulation of cellular stress-response pathways. Their major defect appears to arise from epigenetic instability, presumably through changes in nucleosome positioning due to defective chromatin-remodelling activity. Recent reports have shown that SNF5 loss affects key signalling pathways such as cell cycle regulation, deoxyribonucleic acid (DNA) damage repair and gene transcription. Thus, MRTs offer a unique model for studying the role of epigenetics in driving tumourigenesis and for the development of novel treatment approaches.

Key Concepts:

  • Malignant rhabdoid tumours are rare and aggressive paediatric cancers.

  • MRT was the first tumour in which mutations in the SWI/SNF chromatin-remodelling complex were identified.

  • Inactivation of the SNF5/INI1 tumour suppressor gene drives MRT development.

  • MRTs often show no changes in copy number or karyotype.

  • The key mechanisms by which SNF5/INI1 loss induces MRT development remain unclear.

  • MRTs offer a unique model for epigenetic-driven tumourigenesis.


  • malignant rhabdoid tumour;
  • SWI/SNF complex;
  • SNF5;
  • INI1;
  • chromatin remodeling;
  • epigenetics