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循环肿瘤DNA(circulating tumor DNA,ct DNA)是由实体肿瘤细胞释放到循环系统中的基因组小片段,来源于机体内所有肿瘤部位,其携带的基因组信息与肿瘤组织具有良好的一致性,能克服常规肿瘤组织活检所无法突破的肿瘤异质性问题。通过外周血ct DNA检测可以进行肿瘤相关基因的遗传学和表观遗传学研究,如基因突变、异常扩增、杂合性缺失等,还可以进行定量,追踪机体内特异性基因的状态变化。ct DNA检测是一种新兴技术,相对于传统的肿瘤组织活检具有简单、易行、高重复性等优点,更易被患者接受。目前主要的技术及平台包括PCR技术和二代测序法,两者各有所长,根据不同时期不同需求可以进行调整。ct DNA检测在结直肠癌的早期诊断、疗效评估、动态监测、耐药评估以及个体化精准治疗中具有深远意义及临床价值。
Circulating tumor DNA (circulating tumor DNA, ct DNA) is a small fragment of the genome released by the solid tumor cells into the circulatory system, originating from all the tumor sites in the body, carrying good genome information and tumor tissue with good consistency Conventional tumor biopsy can not break through the tumor heterogeneity. Through the detection of ct DNA in peripheral blood, genetic and epigenetic studies of tumor-related genes, such as gene mutation, abnormal amplification, loss of heterozygosity, etc., can also be carried out to quantify and track the state changes of specific genes in the body. Ct DNA detection is a new technology, compared with the traditional biopsy of tumor tissue has the advantages of simple, easy, high repeatability, more easily accepted by patients. At present, the major technologies and platforms include PCR technology and second-generation sequencing methods, each of which has its own advantages and can be adjusted according to different needs at different times. ct DNA testing in the early diagnosis of colorectal cancer, efficacy evaluation, dynamic monitoring, resistance evaluation and individualized precise treatment of far-reaching significance and clinical value.