Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287; email:
Department of Chemical and Biomolecular Engineering, Whiting School of Engineering, Johns Hopkins University, Baltimore, Maryland 21218.
Annu Rev Med. 2018 Jan 29;69:223-234. doi: 10.1146/annurev-med-041316-085721. Epub 2017 Aug 28.
Circulating tumor DNA (ctDNA) is a component of the "naked" DNA found in blood. It can be isolated from plasma and represents combined genetic material from the primary tumor and metastases. Quantitative and qualitative information about a cancer, including mutations, can be derived using digital polymerase chain reaction and other technologies. This "liquid biopsy" is quicker and more easily repeated than tissue biopsy, yields real-time information about the cancer, and may suggest therapeutic options. All stages of cancer therapy have the ability to benefit from ctDNA, starting with screening for cancer before it is clinically apparent. During treatment of metastatic disease, it is useful to predict response and monitor disease progression. Currently, ctDNA is used in the clinic to select patients who may benefit from epidermal growth factor receptor-targeted therapy in non-small cell lung cancer. In the future, ctDNA technology promises useful applications in every part of clinical oncology care.
循环肿瘤 DNA(ctDNA)是血液中“裸露”DNA 的组成部分。它可以从血浆中分离出来,代表原发肿瘤和转移灶的混合遗传物质。使用数字聚合酶链反应和其他技术可以从 ctDNA 中获取有关癌症的定量和定性信息,包括突变。这种“液体活检”比组织活检更快、更容易重复,可实时提供有关癌症的信息,并可能提示治疗选择。癌症治疗的所有阶段都能从 ctDNA 中获益,从在癌症临床上出现之前进行癌症筛查开始。在转移性疾病的治疗过程中,ctDNA 有助于预测反应和监测疾病进展。目前,ctDNA 已在临床上用于选择可能从非小细胞肺癌表皮生长因子受体靶向治疗中获益的患者。未来,ctDNA 技术有望在肿瘤临床治疗的各个方面得到应用。