Thielker Jovanna, Weise Anja, Othman Moneeb A K, Carreria Isabel M, Melo Joana B, Von Eggeling Ferdinand, Guntinas-Lichius Orlando, Ziegler Monika, Liehr Thomas
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.
Oncol Lett. 2020 Feb;19(2):1125-1130. doi: 10.3892/ol.2019.11198. Epub 2019 Dec 10.
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 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.
涎腺多形性腺瘤（PA）是腮腺实性肿瘤中最常见的类型。然而，其遗传学尚未完全明确。因此，本研究采用细胞遗传学、分子细胞遗传学和/或分子核型分析等独特方法组合，对14例PA进行了特征分析。本研究对外周血和肿瘤组织采用基于胰蛋白酶处理和吉姆萨染色的G显带技术。此外，还使用全染色体涂染或着丝粒探针进行荧光杂交。同时也进行了基于芯片的比较基因组杂交。在14例中的5例中，对染色体和/或亚微观改变进行了特征分析。检测到平衡和不平衡易位、整条染色体的丢失或增加以及亚微观拷贝数改变。此外，还报道了PA中首例所谓的“跳跃易位”病例。在两例PA中，与 twist 相关蛋白1基因和远端缺失同源盒5基因也参与了拷贝数变异。总之，本研究中使用的方法非常适合于描述PA的遗传构成。
