循环瘤DNA和瘤组织的整体外体序列之间的一致性
Julanee Leenanitikul1, Prangwalai Chanchaem2, Suwanan Mankhong2
1Bioinformatics and Computational Biology Program, Chulalongkorn University, Bangkok, Thailand.
PloS one
|October 25, 2023
概括
循环瘤DNA (ctDNA) 的下一代测序显示出对非侵入性癌症诊断的前景. 然而,全外因子测序显示,更高的ctDNA分数对于准确捕捉瘤突变和异质性至关重要.
科学领域:
- 基因组学和分子瘤学
- 癌症诊断和生物标志物 癌症诊断和生物标志物
背景情况:
- 循环瘤DNA (ctDNA) 测序为癌症诊断和突变分析提供了一种非侵入性的方法.
- 诸如低ctDNA分数等限制可以阻碍检测关键的瘤特异性和可采取行动的变体.
研究的目的:
- 评估ctDNA和瘤活检之间的突变特征的一致性,使用全外因子测序 (WES).
- 评估ctDNA部分对瘤特异变异和异质性检测的影响.
主要方法:
- 整体外体序列测序 (WES) 在15名癌症患者的配对ctDNA和瘤活检样本上进行.
- 分析的重点是比较突变特征,并评估ctDNA部分对变体检测的影响.
主要成果:
- 即使ctDNA分数高达16.4%,瘤特异变体的检测也可能不足.
- 更高的ctDNA分数始终与ctDNA和瘤活检突变档案之间的更好的一致性相关.
- ctDNA分析有效捕捉瘤异质性,并识别关键的癌症相关基因,包括患有原发性和转移性疾病的患者.
结论:
- 全外体ctDNA测序是用于非侵入性癌症特征的宝贵工具,但足够的ctDNA分数对于全面分析至关重要.
- ctDNA测序显示了检测瘤异质性和可操作突变的潜力,补充了传统的活检方法.
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