Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA.
Best Pract Res Clin Haematol. 2020 Mar;33(1):101146. doi: 10.1016/j.beha.2020.101146. Epub 2020 Jan 14.
Over the past years, the emergence of liquid biopsy technologies has dramatically expanded our ability to assess multiple myeloma without the need for invasive sampling. Interrogation of cell-free DNA from the peripheral blood recapitulates the mutational landscape at excellent concordance with matching bone marrow aspirates. It can quantify disease burden and identify previously undetected resistance mechanisms which may inform clinical management in real-time. The convenience of sample acquisition and storage provides strong procedural benefits over currently available testing. Further investigations will have to define the role of cell-free DNA as a diagnostic measure by determining clinically relevant tumor thresholds in comparison to existing routine parameters. This review presents an overview of currently available assays and discusses the clinical value, potential and limitations of cell-free DNA technologies for the assessment of this challenging disease.
在过去的几年中，液体活检技术的出现极大地扩展了我们在无需进行有创性取样的情况下评估多发性骨髓瘤的能力。对来自外周血的无细胞 DNA 的检测与匹配的骨髓抽吸物具有极好的一致性，能重现突变景观。它可以定量疾病负担并识别以前未检测到的耐药机制，从而实时为临床管理提供信息。与目前可用的检测方法相比，样本采集和存储的便利性具有很强的程序优势。进一步的研究将必须通过与现有常规参数相比，确定游离 DNA 作为诊断手段的临床相关肿瘤阈值来确定游离 DNA 的作用。本文综述了目前可用的检测方法，并讨论了游离 DNA 技术在评估这种具有挑战性的疾病方面的临床价值、潜力和局限性。
