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基于全基因组测序的ctDNA测序用于乳腺癌检测
I Garcia-Murillas1, C W Abbott2, R J Cutts1
1The Breast Cancer Now Toby Robins Research Centre, The Institute of Cancer Research, London, UK.
概括
全基因组测序检测到早期乳腺癌患者的循环瘤DNA (ctDNA),预测复发的时间为15个月. 这种超敏感的方法在所有复发患者中确定了分子残留疾病 (MRD),超过了基于外体的测试.
科学领域:
- 在瘤学瘤学.
- 基因组学就是基因组学.
- 分子诊断学 分子诊断
背景情况:
- 分子残留疾病 (MRD) 的循环瘤DNA (ctDNA) 检测有助于识别高风险乳腺癌患者.
- 全基因组测序 (WGS) 为ctDNA分析提供了一种高度敏感的方法.
研究的目的:
- 评估一种超敏感的,基于WGS的,针对瘤的ctDNA平台,用于早期乳腺癌中MRD检测.
- 为了将ctDNA检测与临床结果相关联,包括复发和生存.
主要方法:
- 分析了78名乳腺癌早期患者的617个血样本,使用NeXT个人MRD平台 (基于WGS,瘤信息).
- 个性化ctDNA测序面板追踪了每个患者的1451个变异的中位数.
- 从诊断到长期随访,连续采集的样本.
主要成果:
- 98%的患者在诊断时检测到了ctDNA.
- ctDNA检测与未来复发的高风险 (P < 0.0001) 和缩短整体存活时间 (P < 0.0001) 密切相关.
- 从ctDNA检测到临床复发的中位时间为15个月;100%的复发患者显示MRD检测.
结论:
- 一个WGS-poweredMRD测定有效地检测乳腺癌复发与一个显著的领先时间.
- 这种测试表明与无复发生存率和诊断时较高的ctDNA检测率与基于外体的方法相比有很强的关联.
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