软组织肿瘤的比较基因组杂交研究进展

比较基因组杂交(comparative genomic hybridization,CGH) 是1992年建立起来的重大分子细胞遗传学分析技术,它在对整个基因组DNA拷贝数变异的检测方面是一种有效的方法。通过CGH检测,可找出染色体DNA拷贝数的变异特点,即基因拷贝数的扩增或丢失,从而确定相关的癌基因和抑癌基因所在的区域,为探讨肿瘤的发病机制提供依据。在过去的十几年中,用CGH对各种软组织肿瘤进行研究,已探测到了各种各样的有不同程度特异性的基因组的不平衡性,不仅开辟了探测各种癌症相关基因的新途径,并且找到了一些与临床相关的基因改变,可用于肿瘤的发生、发展、鉴别诊断、预后以及治疗等研究。

Progress of comparative genomic hybridization in soft tissue tumors

The advent of comparative genomic hybridization (CGH), which was established in 1992, had opened a reliable way for the detection of all genomic imbalances (copy number alterations of DNA) in each tumor (including archival material) without selection. With the CGH method, we can detect gene aberrations (gains or losses), then define the oncogene and the tumor suppressor gene, finally reveal the tumorigenesis of tumors. In the last decade, different patterns of chromosomal aberrations, including gains and losses of tumor DNA sequences, were detected in various soft tissue sarcomas by CGH. It not only provides a method to detect aberration genes, but also find a way to identify some gene aberrations related to clinicopathologic parameters. The CGH method was now extensively used in research of tumorigenesis, differential diagnosis, tumor development, tumor prognosis and treatment.