Pei Jianming, Jhanwar Suresh C, Testa Joseph R
Cancer Biology Program and Clinical Cytogenomics Laboratory, Fox Chase Cancer Center, Philadelphia, PA 19111, USA.
Leuk Res Rep. 2012 Jan 1;1(1):4-6. doi: 10.1016/j.lrr.2012.09.001.
We describe genomic findings in a case of CLL with del(17p13.1) by FISH, in which SNP array analysis revealed chromothripsis, a phenomenon by which regions of the cancer genome are shattered and recombined to generate frequent oscillations between two DNA copy number states. The findings illustrate the value of SNP arrays for precise whole genome profiling in CLL and for the detection of alterations that would be overlooked with a standard FISH panel. This second report of chromothripsis in CLL indicates that this phenomenon is a recurrent change in this disease.
我们描述了一例经荧光原位杂交（FISH）检测存在17号染色体短臂13.1区缺失（del(17p13.1)）的慢性淋巴细胞白血病（CLL）患者的基因组学发现，其中单核苷酸多态性（SNP）阵列分析显示存在染色体碎裂现象，即癌症基因组区域发生破碎并重新组合，从而在两种DNA拷贝数状态之间产生频繁波动。这些发现说明了SNP阵列在CLL全基因组精确分析以及检测标准FISH检测板可能遗漏的改变方面的价值。这是关于CLL中染色体碎裂现象的第二篇报道，表明该现象在这种疾病中是一种反复出现的变化。
