二代测序技术在骨与软组织肿瘤研究中的应用

Next generation sequencing in application to bone and soft tissue tumor study

近年来,测序技术在肿瘤研究及治疗中应用越来越多,采用该方法可以对肿瘤进行分子特征分析,并试图通过这一过程寻找针对性更强,存在潜在治疗收益的药物,以提高肿瘤治疗效果,特别是对于常规治疗失败的肿瘤。这种方法在一些肿瘤如肺癌、乳腺癌、结直肠癌等领域取得了一些突破性进展,但在异质性很强的肉瘤治疗中,目前尚未得到令人满意的结果,然而对于骨与软组织肿瘤,分子水平检测能否反映出肿瘤生物行为特性,判断预后,指导治疗有待进一步研究。本文旨在通过回顾文献明确二代测序技术在骨与软组织肿瘤基础研究及临床治疗方面的应用现状。

In recent years, the sequencing technology has been widely used in tumor research and clinical practice, and it can be used in the molecular profiling analysis of individual tumor, through which drugs more strongly targeting at certain markers and with potential therapeutic benefits are hoped to be found to enhance the therapeutic effect, especially for the tumor failing in conventional treatment. Sequencing technology has made some breakthroughs in several types of tumors,such as lung cancer, breast cancer and colorectal cancer, however, it has not shown satisfactory effect on sarcoma of heterogeneity nature. Whether molecular level detection can reflect biological tumor behavior characteristics in bone and soft tissue tumor, estimate prognosis and guide treatment still need further study. The purpose of this article is to report current application status of next generation sequencing technology in basic research and clinical treatment of bone and soft tissue tumor through literature review.