Department of Clinical Oncology & Palliative Care, Zealand University Hospital, Køge, Denmark.
Department of Clinical Medicine, Faculty of Health & Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Biotechniques. 2021 Apr;70(4):226-232. doi: 10.2144/btn-2020-0124. Epub 2021 Jan 29.
Liquid biopsies are a minimally invasive method to diagnose and longitudinally monitor tumor mutations in patients when tissue biopsies are difficult (e.g., in lung cancer). The percentage of cell-free tumor DNA in blood plasma ranges from more than 65% to 0.1% or lower. To reliably diagnose tumor mutations at 0.1%, there are two options: unrealistically large volumes of patient blood or library preparation and sequencing depth optimized to low-input DNA. Here, we assess two library preparation methods and analysis workflows to determine feasibility and reliability based on standards with known allelic frequency (0 and 0.13% in ). However, the implementation for patients is still costly and requires elaborate setups.
液体活检是一种微创方法，可在组织活检困难时（例如在肺癌中）诊断和纵向监测患者的肿瘤突变。血浆中无细胞肿瘤 DNA 的百分比从超过 65%到 0.1%或更低不等。为了可靠地诊断 0.1%的肿瘤突变，有两种选择：不切实际地大量采集患者血液或优化文库制备和测序深度以适应低输入 DNA。在这里，我们评估了两种文库制备方法和分析工作流程，以根据具有已知等位基因频率的标准（分别为 0 和 0.13%）确定其可行性和可靠性。然而，对于患者来说，该方法的实施仍然很昂贵，并且需要精心的设置。
