title: Genome-wide acquired uniparental disomy as well as chromosomal gains and losses in an uterine epithelioid leiomyoma.
abstract: BACKGROUND
  Epitheloid leiomyoma is a rare subtype of benign smooth muscle tumors.
  
  
  RESULTS
  Herein, we present the results of classical cytogenetics, MED12 mutation analysis, and copy number variation array evaluation in one such case. Whereas cytogenetic did not show evidence for clonal chromosome abnormalities and no MED12 mutation in the "fibroid hot spot" region was detected, array hybridization revealed multiple abnormalities. Most noteworthy, almost all chromosomes showed copy-number neutral loss of heterozygosity. As examples of further abnormalities, trisomies of chromosomes 8, 12, 20, and X were noted.
  
  
  CONCLUSIONS
  The data presented suggest a near-haploid karyotype of the tumor as the initial genetic alteration followed by secondary duplications of large parts of the genome. The absence of any clonal karyotypic alterations after performing classical cytogenetics is likely explained by a reduced ability of the tumor cells to proliferate in vitro. However, to the best of our knowledge this is the first report of an uterine leiomyoma showing extended uniparental disomy. It remains to be determined if this is a more common phenomenon in epithelioid leiomyomas or even subsets of "ordinary" leiomyomas.
authors.forename: Carsten
authors.initials: C
authors.lastname: Holzmann
authors.forename: Dominique Nadine
authors.initials: DN
authors.lastname: Markowski
authors.forename: Dirk
authors.initials: D
authors.lastname: Koczan
authors.forename: Burkhard Maria
authors.initials: BM
authors.lastname: Helmke
authors.affiliation: Institute for Medical Genetics, University of Rostock, University Medicine, Ernst-Heydemann-Strasse 8, D-18057 Rostock, Germany. joern.bullerdiek@med.uni-rostock.de.
authors.forename: Jörn
authors.initials: J
authors.lastname: Bullerdiek