Data from DNA Methylation-Based Testing in Peripheral Blood Mononuclear Cells Enables Accurate and Early Detection of Colorectal Cancer

• DOI: 10.1158/0008-5472.c.6908388.v1
• Publication Date: 2023-11-01T08:05:03Z
• Authors: Yan Xie; Peilong Li; Dong Sun; Qiuchen Qi; Suhong Ma; Yinghui Zhao; Shujun Zhang; Tiantian Wang; Jing Wang; Shijun Li; Tingting Gong; Huiting Xu; Mengqiu Xiong; Guanghua Li; Chongge You; Zhaofan Luo; Juan Li; Chuanxin Wang; Lutao Du

<div>Abstract<p>An effective blood-based method for the diagnosis of colorectal cancer has not yet been developed. Molecular alterations immune cells occur early in tumorigenesis, providing theoretical underpinning based on cell profiling. Therefore, we aimed to develop an detection peripheral blood mononuclear (PBMC) improve cancer. Analysis genome-wide methylation landscape PBMCs from patients with and healthy controls by microarray, pyrosequencing, targeted bisulfite sequencing revealed five DNA markers diagnosis, especially early-stage A single-tube multiple methylation–specific quantitative PCR assay (multi-msqPCR) simultaneous was established, which allowed analysis samples as little 0.1% PBMC had better discriminative performance than single-molecule detection. Then, a diagnostic model (CDM) multi-msqPCR constructed that achieved high accuracy (AUC = 0.91; sensitivity 81.18%; specificity 89.39%), improved compared CEA 0.79). The CDM also enabled degree discrimination advanced adenoma cases 0.85; 63.04%). Follow-up data demonstrated could identify potential up 2 years before currently used methods. In conclusion, approach this study PBMC-derived is promising easily implementable cancer.</p>Significance:<p>Development epigenetic supports utility altered diagnosis.</p></div>