Atypical teratoid rhabdoid tumor: molecular insights and translation to novel therapeutics

Cody L. Nesvick, Lucie Lafay-Cousin, Aditya Raghunathan, Eric Bouffet, Annie A. Huang, David J. Daniels

Research output: Contribution to journalReview articlepeer-review

3 Scopus citations


Introduction: Atypical teratoid rhabdoid tumor (ATRT) is a rare, often lethal brain tumor of childhood characterized by a complex epigenetic landscape amongst a simple genetic background. Recent molecular studies have defined key biologic events that contribute to tumorigenesis and molecular subtypes of ATRT. Methods: Seminal studies on ATRT are reviewed with an emphasis on molecular pathogenesis and its relevance to novel therapeutics. Results: In this review, we summarize the key clinicopathologic and molecular features of ATRT, completed and ongoing clinical trials and outline the translational potential of novel insights into the molecular pathogenesis of this tumor. Conclusions: SMARCB1 loss is the key genetic event in ATRT pathogenesis that leads to widespread epigenetic dysregulation and loss of lineage-specific enhancers. Current work is defining subtype-specific treatments that target underlying molecular derangements that drive tumorigenesis.

Original languageEnglish (US)
Pages (from-to)47-56
Number of pages10
JournalJournal of neuro-oncology
Issue number1
StatePublished - Oct 2020


  • ATRT
  • Atypical teratoid rhabdoid tumor
  • Chromatin remodeling
  • Epigenetics
  • SWI/SNF complex

ASJC Scopus subject areas

  • Oncology
  • Neurology
  • Clinical Neurology
  • Cancer Research


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