title: Comprehensive genomic analysis identifies MDM2 and AURKA as novel amplified genes in juvenile angiofibromas.
abstract: BACKGROUND
  Frequent beta-catenin mutations have been detected in juvenile angiofibromas, but the tumor pathogenesis remains unknown.
  
  
  METHODS
  Metaphase-comparative genomic hybridization (CGH) was used to identify chromosomal aberrations in 29 tumor specimens. Two tumors were investigated using genome DNA microarrays.
  
  
  RESULTS
  Three hundred eleven chromosomal gains and losses were detected by metaphase-CGH. Frequent chromosomal gains were detected at 4q, 6, 12, and X, while frequent chromosomal losses affected regions of chromosomes 8, 16, 17, 22, and Y. Genome DNA microarray analysis in 2 tumors of the series confirmed chromosomal aberrations, detected by metaphase-CGH, and indicated genes such as AURKA (20q13.2) not being recognized by metaphase-CGH.
  
  
  CONCLUSIONS
  Metaphase-CGH results confirmed numerous chromosomal aberrations in juvenile angiofibromas. The most frequent aberrations affected sex chromosomes. Further consensus regions of chromosomal aberrations were detected at 4q, 6, 8, 12, 16, 17, and 22. AURKA and MDM2 were identified as interesting novel amplified genes in juvenile angiofibromas.
authors.affiliation: Department of Otolaryngology, Head and Neck Surgery, University of Erlangen-Nuremberg, Waldstrasse 1, D-91054 Erlangen, Germany. bernhard.schick@hno.imed.uni-erlangen.de
authors.forename: Bernhard
authors.initials: B
authors.lastname: Schick
authors.forename: Silke
authors.initials: S
authors.lastname: Wemmert
authors.forename: Ulrike
authors.initials: U
authors.lastname: Bechtel
authors.forename: Piero
authors.initials: P
authors.lastname: Nicolai
authors.forename: Thiemo
authors.initials: T
authors.lastname: Hofmann
authors.forename: Wieslaw
authors.initials: W
authors.lastname: Golabek
authors.forename: Steffi
authors.initials: S
authors.lastname: Urbschat
mesh_terms: D018322:Angiofibroma / Q000235:genetics*; D064096:Aurora Kinase A; D064127:Aurora Kinases; D002869:Chromosome Aberrations; D006258:Head and Neck Neoplasms / Q000235:genetics*; D006801:Humans; D008297:Male; D008677:Metaphase; D009693:Nucleic Acid Hybridization / Q000379:methods; D020411:Oligonucleotide Array Sequence Analysis; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D051736:Proto-Oncogene Proteins c-mdm2 / Q000235:genetics*
chemical_list: C497206:MDM2 protein, human; D051736:Proto-Oncogene Proteins c-mdm2; C576917:AURKA protein, human; D064096:Aurora Kinase A; D064127:Aurora Kinases; D017346:Protein Serine-Threonine Kinases