乳腺不同级别导管癌和不典型增生病变基因组DNA拷贝数变化及其意义初探  

Preliminary Analysis of the Abnormality in DNA Copy Number in Low- and High-Grade Carcinomas and Atypical Ductal Hyperplasia of Breast by Comparative Genomic Hybridization

作　　者：牛昀[1,2] 高玉霞[2,3] 王晓维 王淑玲[2] 吕淑华[2] 韦丽[2] 蒋伶活[1] 

机构地区：[1]天津大学,天津市300072 [2]天津医科大学附属肿瘤医院 [3]廊坊市人民医院 [4]人类基因组北方中心

出　　处：《中国肿瘤临床》2012年第22期1805-1809,共5页Chinese Journal of Clinical Oncology

基　　金：国家自然基金项目(编号:30471967;30872519)资助~~

摘　　要：目的:研究乳腺不同级别导管内癌、浸润性导管癌和不典型增生病变基因组DNA拷贝数的变化,探索从分子遗传学角度解释乳腺癌的发生发展机制。方法:采用比较基因组杂交技术检测导管上皮不典型增生、高低级别导管内癌和浸润性导管癌45例,以分析其遗传物质的增益和缺失情况,并分析比较共同的染色体异常区段。结果:低级别癌的染色体平均增益数、缺失数及总的变化数均明显低于高级别癌,但是与浸润性癌之间无显著性差异。不典型增生样本中染色体异常水平明显高于癌组织样本,与低级别癌样本有共同的变化位点。高级别原位癌和浸润性癌具有相同的染色体及其位点的遗传学异常,有多个共同的缺失位点。结论:不典型增生的细胞遗传学变化先于形态学上的改变,可能与低级别癌发生存在密切的遗传学联系;同级别导管内癌和浸润性导管癌可能有共同的遗传学变化和演变途径。Objective： This study was designed to analyze the change in copy number in the DNA sequence in breast atypical duc -tal hyperplasia （ADH） of the breast, low- and high-grade ductal carcinoma in situ （LG-DCIS, HG-DCIS）, as well as low- and high-grade invasive ductal carcinoma （LG-IDC, HG-IDC）. This study was also designed to investigate the pathogenesis involved and provide a molecular cytogenetic mechanism. Methods：Comparative genomic hybridization （CGH） was used to detect the changes in the chromosomal copy number in 45cases of ADH, LG-DCIS, HG-DCIS, LG-IDC, and HG-IDC. Results： The average gain and loss of the chromosome numbers were significantly lower in the low-grade cancer than in the high-grade cancer. However, there were no sig-nificant differences between carcinoma in situ and low-grade invasive carcinoma. The chromosomal abnormality in atypical hyperpla-sia was significantly higher than that in the cancerous tissue. The high-grade carcinoma in situ and the invasive cancer have the same chromosomal and locus cytogenetic abnormalities as those in many common deletions.Conclusion：Cytogenetic changes occur prior to the morphological changes in atypical hyperplasia, which may have close genetic ties with low-grade cancer and may be potential can -cer precursor lesions. The identical grade cancers have collective molecular genetic alterations and com-path to progress.

关 键 词：乳腺低级别癌乳腺高级别癌导管上皮不典型增生 比较基因组杂交DNA拷贝数异常 

分 类 号：R737.9[医药卫生—肿瘤]