Princess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada; Department of Medical Biophysics, University of Toronto, Toronto, ON, Canada; Ontario Institute for Cancer Research, Toronto, ON, Canada.
Semin Hematol. 2018 Jan;55(1):38-40. doi: 10.1053/j.seminhematol.2018.03.002. Epub 2018 Mar 7.
Circulating tumor DNA faithfully recapitulates somatic mutations detected in bone marrow aspirates from patients with newly diagnosed or relapsed or recurrent myeloma. Extending these methods to enable detection of minimal residual disease will require increased sensitivity and breadth of genomic assays to maximize information content from small quantities of cell-free DNA; as well as definition of a clinically meaningful ctDNA concentration in comparison with conventional bone marrow cell-count thresholds. This review describes the use of cell-free DNA sequencing in myeloma to date, identifies challenges associated with pushing limit of detection of these assays into the realm of detecting minimal residual disease, and describes potential strategies to overcome these challenges.
循环肿瘤 DNA 忠实地再现了新诊断或复发/复发性骨髓瘤患者骨髓抽吸物中检测到的体细胞突变。为了使这些方法能够检测到微小残留疾病，需要提高基因组检测的灵敏度和广度，以从少量游离细胞 DNA 中最大化信息含量；同时还需要定义与传统骨髓细胞计数阈值相比具有临床意义的 ctDNA 浓度。本文综述了迄今为止在骨髓瘤中使用游离 DNA 测序的情况，确定了将这些检测方法的检测极限推进到检测微小残留疾病领域所面临的挑战，并描述了克服这些挑战的潜在策略。
