Molecular genetics of atypical teratoid/rhabdoid tumor

Neurosurg Focus. 2006 Jan 15;20(1):E11. doi: 10.3171/foc.2006.20.1.12.


Rhabdoid tumors are extremely aggressive malignancies that generally occur in infants and young children. The most common locations are the kidney and central nervous system (atypical teratoid/rhabdoid tumor [RT]), although RTs can also arise in most soft-tissue sites. Rhabdoid tumors in all anatomical locations have a similar molecular origin. Mutation or deletion of both copies of the hSNF5/INI1 gene that maps to chromosome band 22q11.2 is observed in approximately 70% of primary tumors. An additional 20 to 25% of tumors have reduced expression at the RNA or protein level, indicative of a loss-of-function event. The INI1 protein is a component of the SWI/SNF chromatin remodeling complex. The complex is recruited to promoters of a large variety of genes involved in cell signaling, growth, and differentiation. This review summarizes what is currently known regarding the molecular genetics of RTs.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Central Nervous System Neoplasms / genetics*
  • Chromosomal Proteins, Non-Histone
  • Chromosomes, Human, Pair 22*
  • DNA-Binding Proteins / genetics
  • Humans
  • Kidney Neoplasms / genetics*
  • Molecular Biology / methods*
  • Mutation
  • Rhabdoid Tumor / genetics*
  • SMARCB1 Protein
  • Transcription Factors / genetics


  • Chromosomal Proteins, Non-Histone
  • DNA-Binding Proteins
  • SMARCB1 Protein
  • SMARCB1 protein, human
  • Transcription Factors