title: Atypical teratoid/rhabdoid tumor of the central nervous system: report on workshop.
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.
authors.affiliation: Department of Neurology, Children's National Medical Center, The George Washington University Medical Center, Washington, DC 20010, USA. rpacker@cnmc.org
authors.forename: Roger J
authors.initials: RJ
authors.lastname: Packer
authors.forename: Jaclyn A
authors.initials: JA
authors.lastname: Biegel
authors.forename: Susan
authors.initials: S
authors.lastname: Blaney
authors.forename: Jonathan
authors.initials: J
authors.lastname: Finlay
authors.forename: J Russell
authors.initials: JR
authors.lastname: Geyer
authors.forename: Richard
authors.initials: R
authors.lastname: Heideman
authors.forename: Joanne
authors.initials: J
authors.lastname: Hilden
authors.forename: Anna J
authors.initials: AJ
authors.lastname: Janss
authors.forename: Larry
authors.initials: L
authors.lastname: Kun
authors.forename: Gilbert
authors.initials: G
authors.lastname: Vezina
authors.forename: Lucy B
authors.initials: LB
authors.lastname: Rorke
authors.forename: Malcolm
authors.initials: M
authors.lastname: Smith
mesh_terms: D000970:Antineoplastic Agents / Q000627:therapeutic use; D001932:Brain Neoplasms / Q000235:genetics / Q000473:pathology* / Q000628:therapy; D002675:Child, Preschool; D002868:Chromosomal Proteins, Non-Histone; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D013502:General Surgery; D006801:Humans; D007223:Infant; D009006:Monosomy; D009363:Neoplasm Proteins / Q000235:genetics; D011878:Radiotherapy; D018335:Rhabdoid Tumor / Q000235:genetics / Q000473:pathology* / Q000628:therapy; D000071796:SMARCB1 Protein; D013724:Teratoma / Q000235:genetics / Q000473:pathology* / Q000628:therapy; D014157:Transcription Factors
chemical_list: D000970:Antineoplastic Agents; D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D009363:Neoplasm Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors