Department of Cytogenetics, Institute of Hematology and Blood Transfusion, Prague, Czech Republic.
Center of Oncocytogenetics, Institute of Medical Biochemistry and Laboratory Diagnostics, General University Hospital and First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.
Neoplasma. 2019 Jul 23;66(4):627-630. doi: 10.4149/neo_2018_181010N754.
Deletion 20q is a recurrent abnormality in myeloid malignancies. In our previous study, we identified fusion of the additional sex combs-like 1 (ASXL1) and teashirt zinc finger homeobox 2 genes in a patient with myelodysplastic syndrome. The objective of this study was to determine the frequency of ASXL1 breakpoints in a cohort of 36 patients with deletion 20q as the sole cytogenetic aberration. A combination of molecular cytogenetic methods was used to confirm ASXL1 gene alterations in 19 of the 36 patients, and the determination of ASXL1 gene changes in patients with deletion 20q revealed clinical and prognostic impacts.
20q 缺失是髓系恶性肿瘤中常见的异常。在我们之前的研究中，我们在一位骨髓增生异常综合征患者中发现了额外性别梳样 1（ASXL1）和茶托锌指同源盒 2 基因的融合。本研究的目的是确定在 36 例单纯 20q 缺失的患者中 ASXL1 断裂点的频率。我们采用了分子细胞遗传学方法的组合，在 36 例患者中的 19 例中证实了 ASXL1 基因改变，并对 20q 缺失患者的 ASXL1 基因变化进行了确定，揭示了其临床和预后影响。
