Angelova S, Spassov B, Nikolova V, Christov I, Tzvetkov N, Simeonova M
Tsitol Genet. 2015 Jul-Aug;49(4):17-24.
The aim of our study was to define if the type of primary chromosomal aberrations (CA) of the karyotype of patients with Acute myeloid leukemia (AML) and Myelodysplastic syndromes (MDS) determines the way and the rate of karyotype development. Conventional cytogenetic analysis was carried out on 248 AML and 105 MDS patients at diagnosis. Clonal evolution (CE) was found in 40% (51 of 128) of AML patients and in 47.5% (19 of 40) of MDS patients having CA in their karyotype. The first pattern we established was for the most frequent CA which initiate CE in 28 patients with a complex karyotype. These CA were non-balansed rearrangements in the following regions: 5q, 7q, 11q, 3q, monosomy 5, monosomy 7. The second pattern of CE was regarding the most frequent aneuploidias (+8, +11, +21, -Y, and the third pattern concerned balanced CA. We found significant difference in the distribution of karyotypes in different stages of progression between the first and the other two groups (p < 0.001). No statistical difference was found between the patterns in the second and the third group CA (p > 0.5).
我们研究的目的是确定急性髓系白血病（AML）和骨髓增生异常综合征（MDS）患者核型的原发性染色体畸变（CA）类型是否决定核型演变的方式和速率。在诊断时对248例AML患者和105例MDS患者进行了常规细胞遗传学分析。在核型中有CA的AML患者中，40%（128例中的51例）发现有克隆进化（CE），在MDS患者中这一比例为47.5%（40例中的19例）。我们确定的第一种模式是针对最常见的CA，其在28例复杂核型患者中引发CE。这些CA是以下区域的非平衡性重排：5q、7q、11q、3q、5号染色体单体、7号染色体单体。CE的第二种模式涉及最常见的非整倍体（+8、+11、+21、-Y），第三种模式涉及平衡性CA。我们发现第一组与其他两组在进展不同阶段的核型分布上存在显著差异（p<0.001）。第二组和第三组CA模式之间未发现统计学差异（p>0.5）。
