Publikation: Zeitschriftenartikel

Genome-wide acquired uniparental disomy as well as chromosomal gains and losses in an uterine epithelioid leiomyoma

Grunddaten
Abstract
Autoren
Einrichtung

Grunddaten

Titel	Genome-wide acquired uniparental disomy as well as chromosomal gains and losses in an uterine epithelioid leiomyoma
Veröffentlicht in	Molecular cytogenetics. - London : BioMed Central
Erscheinungsjahr	2014
Band	7
Heft-Nr.	19
Jahr	2014
Publikationsform	Elektronische Ressource
Publikationsart	Zeitschriftenartikel
Sprache	Englisch
DOI	10.1186/1755-8166-7-19
Letzte Änderung	11.02.2020 06:04:58
Bearbeitungsstatus	durch UB Rostock abschließend validiert
Dauerhafte URL	http://purl.uni-rostock.de/fodb/pub/44896
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Abstract

Epitheloid leiomyoma is a rare subtype of benign smooth muscle tumors. 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. 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.

Autoren

Holzmann, Carsten
Markowski, Dominique Nadine
Koczan, Dirk
Helmke, Burkhard Maria
Bullerdiek, Jörn

Einrichtung

UMR/Zentrum für Innere Medizin (ZIM)