title: Genetic alterations in uterine fibroids - a new direction for pharmacological intervention?
abstract: BACKGROUND
  Though uterine leiomyomas (UL) (syn.: fibroids) are by far the most frequent human symptomatic tumors their pathogenesis still remains to be elucidated. From the detection of microscopically visible alterations of chromosomal structure and molecular cytogenetic analyses, as well as from transcriptome and genome analyses, a picture of a heterogeneous group of benign clonal smooth muscle neoplasms emerges that, for clinical as well as histological reasons, have been summarized under the headline 'UL'.
  
  
  METHODS
  In this review, the authors address the background of genetic alterations identified in UL as well their possible clinical significance.
  
  
  CONCLUSIONS
  Of the emerging genetic subgroups of UL those characterized by chromosomal alterations targeting high mobility group protein AT-hook 2 gene (10 - 20%) and those with point mutations of mediator subcomplex 12 (60 - 70%) predominate. Mechanistic models as to how these changes molecularly contribute to tumor development are lagging far behind their identification. Nevertheless, the different sizes of both types of myomas, their different tendency to occur as single or multiple tumors, and even a different probability to undergo malignant transformation suggest that in the future the clinical management of patients with fibroids will benefit from distinguishing between these latter as well as other more rare subgroups.
authors: a 1 University of Bremen, Center of Human Genetics , Leobener Strasse ZHG, Bremen, Germany bullerd@uni-bremen.de.
authors: Dominique N
authors: DN
authors: Markowski
authors: b 2 University Rostock Medical Center, Institute of Medical Genetics , Ernst-Heydemann-Strasse 8, Rostock, Germany.
authors: Carsten
authors: C
authors: Holzmann
authors: a 1 University of Bremen, Center of Human Genetics , Leobener Strasse ZHG, Bremen, Germany bullerd@uni-bremen.de.|b 2 University Rostock Medical Center, Institute of Medical Genetics , Ernst-Heydemann-Strasse 8, Rostock, Germany.
authors: Jörn
authors: J
authors: Bullerdiek
mesh_terms: D000818:Animals; D002869:Chromosome Aberrations; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D007889:Leiomyoma / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D008958:Models, Molecular; D058990:Molecular Targeted Therapy; D009154:Mutation; D014594:Uterine Neoplasms / Q000188:drug therapy / Q000235:genetics*
keywords: chromosomal alterations; mutations; uterine fibroids; uterine leiomyomas