Department of Laboratory Medicine, Dong-A University College of Medicine, Busan, Korea.
Ann Lab Med. 2012 Jul;32(4):294-7. doi: 10.3343/alm.2012.32.4.294. Epub 2012 Jun 20.
Numerical and structural chromosomal abnormalities are common in hematological malignancies. Near-triploidy (58-80 chromosomes) is a numerical abnormality observed in 3% of adult cases of acute lymphoblastic leukemia. Near-triploidy is rare in myeloid lineage hematologic malignancies and compared to near-triploidy in lymphoid malignancies, near-triploidy in myeloid malignancies is associated with poor outcomes. Few studies on near-triploidy in myelodysplastic syndrome (MDS) have been reported, and the clinicopathologic significance of this condition is still unclear. Here, we report a novel case of MDS with near-triploidy and multiple structural chromosomal abnormalities: del(5q) combined with del(1p) and del(13q). These abnormalities were detected by cytogenetic analysis with array comparative genomic hybridization (CGH). Our results suggest that array CGH can be a useful tool for detecting chromosomal abnormalities in patients with MDS.
数值和结构染色体异常在血液恶性肿瘤中很常见。近三倍体（58-80 条染色体）是在 3%的成人急性淋巴细胞白血病病例中观察到的一种数值异常。近三倍体在髓系血液恶性肿瘤中很少见，与淋巴系恶性肿瘤中的近三倍体相比，髓系恶性肿瘤中的近三倍体与不良结局相关。关于骨髓增生异常综合征（MDS）中的近三倍体的研究很少，这种情况的临床病理意义仍不清楚。在这里，我们报告了一例伴有近三倍体和多种结构染色体异常的 MDS 新病例：del(5q) 合并 del(1p) 和 del(13q)。这些异常是通过染色体核型分析与阵列比较基因组杂交（CGH）检测到的。我们的结果表明，阵列 CGH 可以成为检测 MDS 患者染色体异常的有用工具。
