Atypical teratoid/rhabdoid tumor of the central nervous system: report on workshop

J Pediatr Hematol Oncol. Jun-Jul 2002;24(5):337-42. doi: 10.1097/00043426-200206000-00004.

Abstract

Childhood atypical teratoid/rhabdoid tumor (AT/RT) of the central nervous system (CNS) is a recently described entity. Diagnosis is based on distinctive light microscopy and immunohistochemical findings, coupled with molecular genetic analysis. Most AT/RTs demonstrate monosomy 22 or deletions of chromosome band 22q11 with alterations of the hSNF5/INI1 gene. The tumor's incidence is still undefined, but it may comprise as high as 1 in 4 primitive CNS tumors in infants. Treatment is far from optimal, but there are occasional long-term survivors, especially among older children. Therapeutic approached have included surgery, chemotherapy, and radiotherapy. Prospective clinical trials are needed for children with AT/RTs.

Publication types

  • Congress
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Antineoplastic Agents / therapeutic use
  • Brain Neoplasms / genetics
  • Brain Neoplasms / pathology*
  • Brain Neoplasms / therapy
  • Child, Preschool
  • Chromosomal Proteins, Non-Histone
  • Chromosome Deletion
  • Chromosomes, Human, Pair 22 / genetics
  • DNA-Binding Proteins / genetics
  • General Surgery
  • Humans
  • Infant
  • Monosomy
  • Neoplasm Proteins / genetics
  • Radiotherapy
  • Rhabdoid Tumor / genetics
  • Rhabdoid Tumor / pathology*
  • Rhabdoid Tumor / therapy
  • SMARCB1 Protein
  • Teratoma / genetics
  • Teratoma / pathology*
  • Teratoma / therapy
  • Transcription Factors

Substances

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