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通过乳腺癌的体质拷贝数异常,使ctDNA的敏感和精确检测成为可能

Riccardo Scandino¹, Agostina Nardone², Nicola Casiraghi¹

¹Department of Cellular, Computational and Integrative Biology, University of Trento, Trento, Italy.

NPJ breast cancer

|March 8, 2025

概括

一个新的NGS面板eSENSES增强了乳腺癌中无细胞DNA (cfDNA) 和循环瘤DNA (ctDNA) 的检测. 这种工具可靠地监测疾病的进展,并帮助治疗决策.

科学领域:

在瘤学瘤学.
基因组学就是基因组学.
生物标志物发现发现

背景情况:

周围血液中的无细胞DNA (cfDNA) 是瘤学的关键生物标志物.
准确检测体质拷贝数变化 (SCNA) 和循环瘤DNA (ctDNA) 对于癌症管理至关重要.

研究的目的:

开发和验证eSENSES,这是一个下一代测序 (NGS) 面板,用于增强乳腺癌中SCNA和ctDNA的检测.
评估eSENSES对于监测疾病进展的敏感性,特异性和临床实用性.

主要方法:

开发eSENSES,一个2Mb的向NGS面板,包括全基因组和焦点SNP,以及81个乳腺癌相关基因的外基因.
使用定制计算方法进行数据分析.
使用转移性乳腺癌患者的合成和临床样本验证了eSENSES的性能.

主要成果:

eSENSES检测到ctDNA水平低于1%,高灵敏度和特异性在ctDNA水平的2-3%之间.
使用eSENSES的ctDNA估计与转移性乳腺癌患者的疾病进展相关.
与现有技术相比,eSENSES表现出优越的性能.

结论:

eSENSES是乳腺癌研究和临床应用的可靠,强大和具有成本效益的工具.
该小组促进疾病进展的监测,并为治疗决策提供信息.
eSENSES增强了cfDNA作为乳腺癌管理中的生物标记物的实用性.

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