ArticleMolecular cytogenetics2014
Genome-wide acquired uniparental disomy as well as chromosomal gains and losses in an uterine epithelioid leiomyoma.
Article in Molecular cytogenetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Article
- Clinico-pathological features of gynecological myopericytoma: a challenging diagnosis in an exceptional location.Virchows Archiv : an international journal of pathology · 2019Article
- Genomic Copy Number Variation Affecting Genes Involved in the Cell Cycle Pathway: Implications for Somatic Mosaicism.International journal of genomics · 2015Article
- Cytogenetically normal uterine leiomyomas without MED12-mutations - a source to identify unknown mechanisms of the development of uterine smooth muscle tumors.Molecular cytogenetics · 2014Article
- Reasons to Reconsider Risk Associated With Power Morcellation of Uterine Fibroids.In vivo (Athens, Greece)Review
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Authors and funding
5 authors.
Funding
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Abstract
backgroundEpitheloid leiomyoma is a rare subtype of benign smooth muscle tumors.
resultsHerein, 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. DISCUSSION: 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.
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