Autor(es): Thielker, Jovanna ; Weise, Anja ; Othman, Moneeb A. K. ; Carreira, Isabel M. ; Melo, Joana B. ; Von Eggeling, Ferdinand ; Guntinas-Lichius, Orlando ; Ziegler, Monika ; Liehr, Thomas
Data: 2020
Identificador Persistente: https://hdl.handle.net/10316/106524
Origem: Estudo Geral - Universidade de Coimbra
Assunto(s): molecular cytogenetics; pleomorphic adenoma; copy number variations; molecular karyotyping; jumping translocation
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.
