Biology and Treatment of Rhabdoid Tumor

Crit Rev Oncog. 2015;20(3-4):199-216. doi: 10.1615/critrevoncog.2015013566.


Rhabdoid tumor is a rare, highly aggressive malignancy that primarily affects infants and young children. These tumors typically arise in the brain and kidney, although extrarenal, non-central nervous system tumors in almost all soft-tissue sites have been described. SMARCB1 is a member of the SWI/SNF chromatin-remodeling complex and functions as a tumor suppressor in the vast majority of rhabdoid tumors. Patients with germline mutations or deletions affecting SMARCB1 are predisposed to the development of rhabdoid tumors, as well as the genetic disorder schwannomatosis. The current hypothesis is that rhabdoid tumors are driven by epigenetic dysregulation, as opposed to the alteration of a specific biologic pathway. The strategies for novel therapeutic approaches based on what is currently known about rhabdoid tumor biology are presented.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Animals
  • Chromosomal Proteins, Non-Histone / genetics*
  • DNA-Binding Proteins / genetics*
  • Epigenesis, Genetic / genetics
  • Genetic Therapy / methods
  • Genetic Therapy / trends
  • Humans
  • Rhabdoid Tumor / diagnosis
  • Rhabdoid Tumor / genetics*
  • Rhabdoid Tumor / therapy*
  • SMARCB1 Protein
  • Transcription Factors / genetics*
  • Treatment Outcome


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