title: Patterns of Chromosomal Abnormalities that Can Improve Diagnosis of Uterine Smooth Muscle Tumors.
abstract: OBJECTIVE
  Compared to leiomyomas, smooth muscle tumors of uncertain malignant potential (STUMP), and leiomyosarcomas (LMS) originating from the Muellerian duct are very rare. Their molecular pathogenesis remains poorly understood. The present article aims at performing genetic analyses of these tumors that may help assist histopathological examination.
  
  
  METHODS
  Ten tumors (four STUMP and six LMS) were investigated by copy number arrays.
  
  
  RESULTS
  Two tumors, both classified as STUMP were shown to carry MED12 mutations with one of them presenting with a detectable copy number alteration. All other tumors had multiple copy number changes with a clear predominance of losses. Five chromosomal arms (1p, 13q, 14q, 16q, 22q) were affected by overlapping lost segments in at least four tumors including two cases with biallelic losses of the retinoblastoma gene locus.
  
  
  CONCLUSIONS
  Besides the general presence of copy number alterations and particular genetic alterations, heterogeneity and ongoing karyotypic evolution indicate malignancy or approaching malignancy.
authors.affiliation: Institute of Medical Genetics, University Rostock Medical Center, Rostock, Germany.
authors.forename: Carsten
authors.initials: C
authors.lastname: Holzmann
authors.affiliation: Center of Human Genetics, University of Bremen, Bremen, Germany.
authors.forename: Dominique Nadine
authors.initials: DN
authors.lastname: Markowski
authors.affiliation: Albertinen-Hospital, Gynecological Clinics, Gynecology and Obstetrics Department, Hamburg, Germany.
authors.forename: Ingo
authors.initials: I
authors.lastname: VON Leffern
authors.affiliation: Albertinen-Hospital, Institute of Pathology, Hamburg, Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Löning
authors.affiliation: Institute of Medical Genetics, University Rostock Medical Center, Rostock, Germany Center of Human Genetics, University of Bremen, Bremen, Germany bullerd@uni-bremen.de.
authors.forename: Jörn
authors.initials: J
authors.lastname: Bullerdiek
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D014408:Biomarkers, Tumor / Q000235:genetics*; D002869:Chromosome Aberrations; D005260:Female; D006801:Humans; D007890:Leiomyosarcoma / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D018235:Smooth Muscle Tumor / Q000235:genetics* / Q000473:pathology; D014594:Uterine Neoplasms / Q000235:genetics* / Q000473:pathology
chemical_list: D014408:Biomarkers, Tumor
keywords: STUMP; Uterine smooth muscle tumors; leiomyosarcoma