个性化循环瘤DNA (ctDNA) 分析使得在急性髓性白血病 (AML) 中能够优越和普遍测量残留疾病 (MRD) 的检测
medRxiv : the preprint server for health sciences
|February 12, 2026
概括
一种针对急性髓性白血病 (AML) 的新型个性化血液测试,使用循环瘤DNA (ctDNA) 检测最小残留疾病 (MRD). 这种高度敏感的方法比标准测试更好地预测复发和存活率,为AML患者提供了更好的监测.
科学领域:
- 血液学 血液学 血液学
- 在瘤学瘤学.
- 分子诊断学 分子诊断学
背景情况:
- 复发性或耐药性急性髓性白血病 (AML) 是死亡的主要原因.
- 有效的最小残留疾病 (MRD) 检测对于管理AML至关重要.
- 目前的MRD方法缺乏普遍适用性和高灵敏度.
研究的目的:
- 开发和验证一个个性化测定,用于在AML中敏感的MRD检测.
- 为了比较循环瘤DNA (ctDNA) 与细胞MRD检测的疗效.
- 评估基于ctDNA的MRD在预测复发和存活的有用性,包括移植后.
主要方法:
- 开发了AML-CAPP-Seq,一种使用深度测序的个性化混合捕获试验.
- 分析了56名AML患者的纵向血,外周血液和骨髓样本.
- 通过全外体序列测定识别的追踪法定AML驱动因素和患者特定变异.
主要成果:
- AML-CAPP-Seq使得可以对克隆动态进行普遍的MRD评估和解决.
- 血ctDNA在MRD检测方面表现优异,与细胞区相比.
- 基于ctDNA的MRD强烈预测了无复发和整体存活率 (HR>17).
- 移植前期ctDNA-MRD动态改善了异种移植受体的复发风险分层 (HR 36.0).
结论:
- 个性化ctDNA分析是一个极少侵入性的,高度敏感的平台,用于AML MRD检测.
- ctDNA分析增强了AML的临床监测和风险分层.
- 这种方法支持针对AML的个性化疾病监测和治疗策略.
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