切除食道腺癌患者的全基因组和基于小组的无细胞DNA特征
Tom van den Ende1,2, Ymke van der Pol2,3, Aafke Creemers1,2
1Department of Medical Oncology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
The Journal of pathology
|August 24, 2023
概括
将循环瘤DNA (ctDNA) 突变数据与浅层全基因组测序 (sWGS) 结合起来,改善了可切除食道腺癌 (EAC) 的检测和预后. 这种多信号方法增强了EAC患者的风险分层.
科学领域:
- 在瘤学瘤学.
- 分子诊断学 分子诊断
- 基因组学就是基因组学.
背景情况:
- 循环瘤DNA (ctDNA) 显示出预测可切除食道腺癌 (EAC) 的结果的潜力.
- 目前的ctDNA检测方法缺乏在EAC广泛临床应用的灵敏度.
- 需要改进ctDNA分析,以提高病理反应和生存预测.
研究的目的:
- 将ctDNA突变数据与浅层全基因组测序 (sWGS) 衍生的副本数量瘤分数估计 (ichorCNA) 结合起来.
- 改善可切除食道腺癌 (EAC) 的病理反应和生存预测.
- 评估多信号ctDNA分析对预后的有用性.
主要方法:
- 在基线,新辅助化学放射治疗 (nCRT) 后和手术前对111名II/III期EAC患者的血样本进行分析.
- 浅层全基因组测序 (sWGS) (<5×覆盖) 用 ichorCNA.使用副本数异常估计.
- 在基线和手术前样本中检测ctDNA突变的定制安普利康面板测序.
主要成果:
- 在EAC患者中,ctDNA组合检测 (突变和ichorCNA) 达到了50.5%.
- 基线ctDNA阳性与较高的T阶段 (cT3,4) 相相关,但没有病理反应.
- 基线ctDNA指标和手术前ctDNA未清除预测了疾病进展和早期复发的高风险.
结论:
- 多信号分析显著提高了可切除EAC中的ctDNA检测率.
- 结合ctDNA突变和拷贝数数据为EAC患者提供了有价值的预后信息.
- 未来的研究应该探索EAC中风险分层和个性化治疗适应的多模式测序.
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