从游离 DNA 预测液体活检中的肿瘤含量。
Predicting tumour content of liquid biopsies from cell-free DNA.
机构信息
Department of Biosystems Science and Engineering, ETH Zurich, 4058, Basel, Switzerland.
SIB Swiss Institute of Bioinformatics, 4058, Basel, Switzerland.
出版信息
BMC Bioinformatics. 2023 Sep 30;24(1):368. doi: 10.1186/s12859-023-05478-8.
BACKGROUND
Liquid biopsy is a minimally-invasive method of sampling bodily fluids, capable of revealing evidence of cancer. The distribution of cell-free DNA (cfDNA) fragment lengths has been shown to differ between healthy subjects and cancer patients, whereby the distributional shift correlates with the sample's tumour content. These fragmentomic data have not yet been utilised to directly quantify the proportion of tumour-derived cfDNA in a liquid biopsy.
RESULTS
We used statistical learning to predict tumour content from Fourier and wavelet transforms of cfDNA length distributions in samples from 118 cancer patients. The model was validated on an independent dilution series of patient plasma.
CONCLUSIONS
This proof of concept suggests that our fragmentomic methodology could be useful for predicting tumour content in liquid biopsies.
背景
液体活检是一种微创的采样方法，能够揭示癌症的证据。游离 DNA（cfDNA）片段长度的分布在健康受试者和癌症患者之间有所不同，其分布变化与样本中的肿瘤含量相关。这些片段组学数据尚未被用于直接定量液体活检中肿瘤衍生 cfDNA 的比例。
结果
我们使用统计学习从 118 名癌症患者的 cfDNA 长度分布的傅里叶和小波变换中预测肿瘤含量。该模型在患者血浆的独立稀释系列中得到了验证。
结论
这一概念验证表明，我们的片段组学方法可能有助于预测液体活检中的肿瘤含量。
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