这篇研究开发了一种名为 CloneSeq-SV 的新方法,用于跟踪高级别浆液性卵巢癌 (HGSOC) 患者治疗过程中的克隆演化。CloneSeq-SV 结合了单细胞全基因组测序和靶向深度测序,利用结构变异 (SVs) 作为高度敏感的标记物,通过时间序列的游离DNA (cfDNA) 来测量共存克隆群体的相对丰度。研究发现,耐药性通常源于诊断时已存在的单个或少数克隆的选择性扩增,这些耐药克隆经常表现出可解释的基因组特征,例如 CCNE1、RAB25、MYC 和 NOTCH3 等癌基因的高水平扩增。总而言之,研究结果表明 HGSOC 的耐药状态在诊断时就已预先存在,并支持未来针对克隆演化采取适应性治疗方案的调查。References: Williams M J, Vázquez-García I, Tam G, et al. Tracking clonal evolution during treatment in ovarian cancer using cell-free DNA[J]. Nature, 2025: 1-9.
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