The Vanderbilt-Ingram Cancer Center, Division of Hematology/Oncology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Br J Cancer. 2021 Sep;125(6):780-788. doi: 10.1038/s41416-021-01422-w. Epub 2021 May 26.
Advances in genomic strategies and the development of targeted therapies have enabled precision medicine to revolutionise the field of oncology. Precision medicine uses patient-specific genetic and molecular information, traditionally obtained from tumour biopsy samples, to classify tumours and treat them accordingly. However, biopsy samples often fail to provide complete tumour profiling, and the technique is expensive and, of course, relatively invasive. Advances in genomic techniques have led to improvements in the isolation and detection of circulating tumour DNA (ctDNA), a component of a peripheral blood draw/liquid biopsy. Liquid biopsy offers a minimally invasive method to gather genetic information that is representative of a global snapshot of both primary and metastatic sites and can thereby provide invaluable information for potential targeted therapies and methods for tumour surveillance. However, a lack of prospective clinical trials showing direct patient benefit has limited the implementation of liquid biopsies in standard clinical applications. Here, we review the potential of ctDNA obtained by liquid biopsy to revolutionise personalised medicine and discuss current applications of ctDNA both at the benchtop and bedside.
基因组策略的进步和靶向治疗的发展使精准医学彻底改变了肿瘤学领域。精准医学利用患者特定的遗传和分子信息，这些信息通常来自肿瘤活检样本，对肿瘤进行分类并进行相应的治疗。然而，活检样本往往无法提供完整的肿瘤分析，而且该技术昂贵，当然也相对具有侵入性。基因组技术的进步使得循环肿瘤 DNA（ctDNA）的分离和检测得到了改善，ctDNA 是外周血采集/液体活检的一个组成部分。液体活检提供了一种微创的方法来收集具有代表性的遗传信息，这些信息代表了原发性和转移性部位的全局快照，因此可以为潜在的靶向治疗和肿瘤监测方法提供宝贵的信息。然而，缺乏直接显示患者受益的前瞻性临床试验限制了液体活检在标准临床应用中的实施。在这里，我们回顾了液体活检获得的 ctDNA 彻底改变个性化医学的潜力，并讨论了 ctDNA 在实验室和床边的当前应用。
