Furuta Koh
Rinsho Byori. 2016 May;64(4):394-399.
Cell-free DNA is "Fragmented DNA found in circulation in the Cell-free component of whole blood". Cell-free DNA derived from tumors is expressed as circulating tumor DNA. Examination of circulating tu- mor DNA for genetic alterations present in the tumor tissue is defined as liquid biopsy. Currently in the cancer field, Cell-free DNA or CTC (Circulating tumor cells) is the main target of "Liquid Biopsy". Acquir- ing Cell-free DNA or CTC presents little challenge because of the recent technological developments. However, we need to improve the efficiency of CTC retrieval, and we also need to establish how to culture the retrieved CTCs. For clinical applications, PGx (Pharmacogenomics) and PGt (Pharmacogenetics) fol- lowing NGS (Next Generation Sequencing) are attractive areas for new and future applications. The intro- duction of "Liquid Biopsy" to the area of clinical trials is already in progress. As an expert group, members of the JSLM (Japanese Society of Laboratory Medicine) need to indicate the presence of quality control or quality management in the area of "Liquid Biopsy". Besides these quality issues, we, as clinical pathologists, need to think about harmonizing our expertise with surgical pathologists, who have historically handled clas- sical biopsies of solid samples. The field of "Liquid Biopsy" has marked potential; however, we need to overcome various obstacles to realize this.
游离DNA是“在全血的无细胞成分中循环发现的片段化DNA”。源自肿瘤的游离DNA被称为循环肿瘤DNA。检测循环肿瘤DNA中肿瘤组织存在的基因改变被定义为液体活检。目前在癌症领域，游离DNA或循环肿瘤细胞（CTC）是“液体活检”的主要靶点。由于最近的技术发展，获取游离DNA或CTC几乎没有挑战。然而，我们需要提高CTC提取的效率，还需要确定如何培养提取的CTC。对于临床应用，下一代测序（NGS）后的药物基因组学（PGx）和药物遗传学（PGt）是新的和未来应用的有吸引力的领域。“液体活检”引入临床试验领域的工作已经在进行中。作为一个专家小组，日本临床检验医学会（JSLM）的成员需要指出“液体活检”领域中质量控制或质量管理的存在。除了这些质量问题，作为临床病理学家，我们需要考虑如何将我们的专业知识与历史上处理实体样本经典活检的外科病理学家的知识相协调。“液体活检”领域具有显著的潜力；然而，我们需要克服各种障碍才能实现这一点。
