Cancer Precision Medicine Center, Japanese Foundation for Cancer Research, Tokyo, Japan.
Department of Gastroenterological Surgery II, Faculty of Medicine, Hokkaido University, Sapporo, Hokkaido, Japan.
J Hum Genet. 2021 Sep;66(9):909-926. doi: 10.1038/s10038-021-00939-5. Epub 2021 Jun 4.
Liquid biopsies have been receiving tremendous attentions as easy, rapid, and non-invasive tools for cancer diagnosis. Liquid biopsy can be performed repeatedly for disease monitoring and is expected to overcome the limitations of tissue biopsies. With the advancement of next generation sequencing technologies, it is now possible to detect minute amount of tumor-derived circulation tumor DNA (ctDNA) from blood samples. Importantly, ctDNA detection could be complementary to tissue biopsies or tumor biomarkers particularly in cases of which tumor biopsy is clinically difficult to obtain. Here, we introduce the up-to-date technologies used in cfDNA-based liquid biopsy and review the clinical utilities of ctDNA in cancer screening, detection of minimal residual diseases, selection of molecular-targeted drugs, as well as monitoring of treatment responsiveness. We also discuss the challenges and future perspectives of liquid biopsy implementation in clinical setting.
液体活检作为一种简便、快速、非侵入性的癌症诊断工具，受到了广泛关注。液体活检可重复进行，用于疾病监测，有望克服组织活检的局限性。随着下一代测序技术的进步，现在可以从血液样本中检测到微量的肿瘤衍生循环肿瘤 DNA（ctDNA）。重要的是，ctDNA 检测可以与组织活检或肿瘤标志物互补，特别是在肿瘤活检难以获得的情况下。在这里，我们介绍了基于 cfDNA 的液体活检中使用的最新技术，并综述了 ctDNA 在癌症筛查、微小残留病灶检测、分子靶向药物选择以及治疗反应监测中的临床应用。我们还讨论了液体活检在临床应用中面临的挑战和未来展望。
