title: Hyperhaploid uterine mesenchymal tumors-a novel genetic subgroup?
abstract: Hyperhaploid karyotypes have been described to occur in subsets of various solid tumors and leukemias. In these cases, monosomy is noted for most of the chromosomes while a few chromosomes still remain disomic. Evidence has emerged that at least in some tumor entities these remaining chromosomes are non-randomly selected. In addition, structural alterations can accompany the reduced chromosome number and secondary duplication of the chromosome complement is also a frequent finding. In this report, we describe hyperhaploidy in a case of an endometrial stromal nodule of a 50 year old woman who underwent hysterectomy because of symptomatic uterine fibroids. In addition, we review two other recently described cases of uterine mesenchymal tumors with that type of genetic alteration. Despite some histologic differences, striking similarities between these three cases exist with respect to the chromosomes were retained as disomic. Thus, the question arises if hyperhaploidy defines a novel genetic subgroup of uterine mesenchymal tumors.
authors.affiliation: Institute of Medical Genetics, University Rostock Medical Center, Rostock, Germany.
authors.forename: Carsten
authors.initials: C
authors.lastname: Holzmann
authors.affiliation: Pathology Department, Albertinen-Hospital, 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. Electronic address: joern.bullerdiek@med.uni-rostock.de.
authors.forename: Jörn
authors.initials: J
authors.lastname: Bullerdiek
mesh_terms: D000782:Aneuploidy; D004252:DNA Mutational Analysis; D036821:Endometrial Stromal Tumors / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007621:Karyotyping; D008875:Middle Aged; D014594:Uterine Neoplasms / Q000235:genetics* / Q000473:pathology
keywords: Hyperhaploidy; endometrial stromal tumor; genetic classification; molecular inversion probe array; uterine mesenchymal tumors