Cancer Center, Renmin Hospital of Wuhan University, Wuhan, China.
Molecular department, Kindstar global, Wuhan, China.
Sci Rep. 2017 Sep 4;7(1):10354. doi: 10.1038/s41598-017-10551-3.
Myelodysplastic syndromes (MDS) are a group of heterogeneous hematologic malignancies. This study aims to identify latent chromosomal abnormalities relevant to MDS, which may optimize the current diagnosis of MDS. Affymetrix CytoScan 750 K microarray platform was utilized to perform a genome-wide detection of chromosomal aberrations in the bone marrow cells of the patients. The findings were compared with the results from traditional karyotypic analysis and FISH to reveal latent chromosomal aberrations. Chromosomal gain, loss, and UPD, and complex karyotypes were identified in those samples. In addition to established cytogenetic aberrations detected by karyotypic analysis, CytoScan 750 K microarray also detected cryptic chromosomal lesions in MDS. Those latent defects underlying multiple gene mutations may construe the clinical variability of MDS. In Conclusion, Affymetrix CytoScan 750 K microarray is efficient in identifying latent chromosomal aberrations in MDS.
骨髓增生异常综合征（MDS）是一组异质性血液恶性肿瘤。本研究旨在鉴定与 MDS 相关的潜在染色体异常，这可能优化 MDS 的当前诊断。利用 Affymetrix CytoScan 750K 微阵列平台对患者骨髓细胞中的染色体异常进行全基因组检测。将这些发现与传统核型分析和 FISH 的结果进行比较，以揭示潜在的染色体异常。在这些样本中鉴定出染色体增益、缺失和 UPD 以及复杂核型。除了通过核型分析检测到的已建立的细胞遗传学异常外，CytoScan 750K 微阵列还在 MDS 中检测到隐匿性染色体病变。这些潜在的基因突变可能导致 MDS 的临床变异性。总之，Affymetrix CytoScan 750K 微阵列在鉴定 MDS 中的潜在染色体异常方面非常有效。
