Pei Jianming, Robu Valentin, Feder Madelyn, Cheung Mitchell, Neumann-Domer Erin, Talarchek Jacqueline, Dulaimi Essel, Millenson Michael M, Testa Joseph R
Cancer Biology Program, Fox Chase Cancer Center, Philadelphia, PA, USA; Clinical Cytogenomics Laboratory, Fox Chase Cancer Center, Philadelphia, PA, USA.
Department of Pathology, Fox Chase Cancer Center, Philadelphia, PA, USA.
Cancer Genet. 2014 Mar;207(3):98-102. doi: 10.1016/j.cancergen.2014.02.005. Epub 2014 Feb 15.
Single nucleotide polymorphism (SNP)-based chromosome microarray analysis was used to uncover copy neutral loss of heterozygosity (LOH) in the long arm of chromosome 20 in blood or bone marrow specimens from three patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL). All three patients presented with lymph node enlargement. Whereas one of the patients has had a complicated clinical course, the other two have a more indolent disease. Sequence analysis of the tumor suppressor gene ASXL1, which is located in 20q and is commonly mutated in malignant myeloid diseases and occasionally in CLL/SLL specimens, revealed no mutations in our three patients with copy neutral LOH in 20q. The possible contribution of other imprinted microRNAs and antisense genes residing in 20q to the pathogenesis of a subset of CLL/SLL patients is discussed. These findings illustrate the value of SNP arrays for the detection of novel recurrent genomic alterations that may contribute to CLL/SLL onset or progression.
基于单核苷酸多态性（SNP）的染色体微阵列分析用于揭示3例慢性淋巴细胞白血病/小淋巴细胞淋巴瘤（CLL/SLL）患者血液或骨髓标本中20号染色体长臂的拷贝中性杂合性缺失（LOH）。所有3例患者均表现为淋巴结肿大。其中1例患者临床病程复杂，另外2例病情进展较为缓慢。位于20q且在恶性髓系疾病中常见突变、在CLL/SLL标本中偶尔突变的肿瘤抑制基因ASXL1的序列分析显示，我们3例20q拷贝中性LOH患者未发现突变。讨论了20q中其他印记微小RNA和反义基因对一部分CLL/SLL患者发病机制的可能作用。这些发现说明了SNP阵列在检测可能导致CLL/SLL发病或进展的新型复发性基因组改变方面的价值。
