title: Chromosomal imbalances detected by comparative genomic hybridisation in atypical teratoid/rhabdoid tumours.
abstract: BACKGROUND
  Atypical teratoid/rhabdoid tumours (AT/RT) are highly malignant embryonal tumours of the brain composed of rhabdoid cells. Inactivating mutations of the hSNF5/INI-1 gene located in the chromosomal region 22q11.2 are regarded as a crucial step in their molecular pathogenesis. Apart from monosomy or deletions of chromosome 22 not much data exists on additional chromosomal aberrations.
  
  
  METHODS
  We investigated seven primary AT/RT by comparative genomic hybridisation (CGH) and found DNA copy number changes in each case.
  
  
  RESULTS
  These consisted of loss of 22q in 7 out of 7 (100%) and loss of 19 in 3 out of 7 (43%) patients. In 4/7 AT/RT (57%), loss of chromosome 22q was the sole aberration whereas one patient showed additional losses of 16p, 17p and 20q.
  
  
  CONCLUSIONS
  Our CGH data suggest that apart from monosomy 22 additional genetic pathways may seem feasible for a subset of AT/RT that is yet to be defined. Furthermore, this study also emphasises the potential practical value of loss of chromosome 22 as a diagnostic marker for AT/RT.
authors.affiliation: Institute of Pathology, University Hospital Münster, Domagkstrasse 17, 48149 Münster, Germany. rickchr@uni-muenster.de
authors.forename: Christian H
authors.initials: CH
authors.lastname: Rickert
authors.forename: Werner
authors.initials: W
authors.lastname: Paulus
mesh_terms: D001932:Brain Neoplasms / Q000235:genetics*; D002675:Child, Preschool; D002868:Chromosomal Proteins, Non-Histone; D002869:Chromosome Aberrations; D002892:Chromosomes, Human, Pair 22; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D009693:Nucleic Acid Hybridization; D018335:Rhabdoid Tumor / Q000235:genetics*; D000071796:SMARCB1 Protein; D014157:Transcription Factors
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors