Molecular cytogenetic pilot study on pleomorphic adenomas of salivary glands

Thielker,Jovanna; Weise,Anja; Othman,Moneeb  A.K.; Carreria,Isabel  M.; Melo,Joana  B.; von Eggeling,Ferdinand; Guntinas‑Lichius,Orlando; Ziegler,Monika; Liehr,Thomas

doi:10.3892/ol.2019.11198

Molecular cytogenetic pilot study on pleomorphic adenomas of salivary glands

Authors:
- Jovanna Thielker
- Anja Weise
- Moneeb A.K. Othman
- Isabel M. Carreria
- Joana B. Melo
- Ferdinand von Eggeling
- Orlando Guntinas‑Lichius
- Monika Ziegler
- Thomas Liehr
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Affiliations: Department of Otorhinolaryngology, Jena University Hospital, Friedrich Schiller University, D‑07747 Jena, Germany, Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, D‑07747 Jena, Germany, Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Polo Ciências da Saúde, Coimbra 3000‑354, Portugal
Published online on: December 10, 2019 https://doi.org/10.3892/ol.2019.11198
Pages: 1125-1130
Copyright: © Thielker et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Pleomorphic adenomas (PAs) of salivary glands are the most frequent entity of solid parotid tumors. Nonetheless, their genetics is not yet well understood. Thus, the current study characterized 14 PAs using a unique combination of cytogenetic, molecular cytogenetic and/or molecular karyotyping based approaches. The current study applied G‑banding based on trypsin treatment and Giemsa‑staining in peripheral blood and tumor tissue. Additionally, fluorescence in situ hybridization was performed using whole chromosome painting or centromeric probes. Array‑based comparative genomic hybridization was also conducted. In 5 of 14 cases, chromosomal and/or submicroscopic alterations were characterized. Balanced and unbalanced translocations, loss or gain of whole chromosomes and submicroscopic copy number alterations were detected. Furthermore, the first case of a so‑called ‘jumping translocation’ in a PA was reported. The genes twist‑related protein 1 and distal‑less homeobox 5 were also involved in copy number variations in two PAs. In conclusion, approaches utilized in the current study are highly suited to characterize the genetic constitution of PAs.

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