子宫内膜腺癌中的基因组不平衡——比较 DNA 倍性、核型分析和比较基因组杂交。
Genomic imbalances in endometrial adenocarcinomas - comparison of DNA ploidy, karyotyping and comparative genomic hybridization.
机构信息
Section for Interphase Genetics, Institute for Medical Informatics, Oslo University Hospital, Norway.
出版信息
Mol Oncol. 2012 Feb;6(1):98-107. doi: 10.1016/j.molonc.2011.10.002. Epub 2011 Oct 20.
DNA ploidy analysis is useful for prognostication in cancer patients, but the genomic details underlying ploidy changes are not fully understood. To improve this understanding, we compared DNA ploidy status with karyotypic and comparative genomic hybridization data on 51 endometrial adenocarcinomas. Out of 34 DNA diploid tumors evaluated by CGH, 16 (47%) showed imbalances, though only two had more than four copy number changes. Ten (29%) had aberrations involving chromosome 1, seven (21%) involving chromosome 10, while one tumor had a chromosome 8 aberration. Four of the seven DNA tetraploid tumors (57%) had imbalances detected by CGH with two (29%) having more than four. Six out of eight DNA aneuploid tumors showed imbalances by CGH, with five (63%) having more than four. The aberrations were observed on chromosomes 1 and 8 in five/eight (63%) cases while four imbalances (50%) involved chromosomes 5, 7 and X. Not surprisingly, we observed a significant correlation between increasing DNA ploidy complexity and increasing number of copy alterations. Gains of material from chromosomes 8 and 7 might be specifically correlated to DNA aneuploidy in endometrial adenocarcinomas since 63% and 50% of the aneuploid compared to 3% of the diploid tumors showed imbalances involving these chromosomes.
DNA 倍性分析对癌症患者的预后有帮助，但倍性变化的基因组细节尚不完全清楚。为了更好地理解这一点，我们将 51 例子宫内膜腺癌的 DNA 倍性状态与核型和比较基因组杂交（CGH）数据进行了比较。在通过 CGH 评估的 34 例 DNA 二倍体肿瘤中，有 16 例（47%）存在不平衡，尽管只有 2 例有超过 4 个拷贝数变化。有 10 例（29%）涉及 1 号染色体的畸变，7 例（21%）涉及 10 号染色体，而 1 例肿瘤存在 8 号染色体异常。在 7 例 DNA 四倍体肿瘤中，有 4 例（57%）通过 CGH 检测到不平衡，其中 2 例（29%）有超过 4 个拷贝数变化。在 8 例 DNA 非整倍体肿瘤中，有 6 例（63%）通过 CGH 检测到不平衡，其中 5 例（63%）有超过 4 个拷贝数变化。在 5/8 例（63%）病例中观察到染色体 1 和 8 的畸变，而 4 个不平衡（50%）涉及染色体 5、7 和 X。毫不奇怪，我们观察到 DNA 倍性复杂性的增加与拷贝数改变数量的增加之间存在显著相关性。8 号和 7 号染色体物质的增益可能与子宫内膜腺癌的 DNA 非整倍性特别相关，因为在非整倍体肿瘤中，63%和 50%的病例显示涉及这些染色体的不平衡，而在二倍体肿瘤中，只有 3%的病例显示涉及这些染色体的不平衡。
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