Early detection and prognosis prediction for colorectal cancer by circulating tumor DNA methylation haplotypes

Early detection and prognosis prediction of colorectal cancer (CRC) can significantly reduce CRC-related mortality. A cohort study at Fudan University (Shanghai) and Southern Medical University (Guangzhou) used the ColonES assay, that detects ctDNA methylation haplotype patterns in 191 genomic regions. The assay was used to analyze ctDNA methylation haplotype patterns based on archived plasma samples from healthy individuals, patients with advanced adenoma (AA), and patients with CRC. The model obtained discrimated patients with CRC or AA from normal controls with high accuracy. The AUC for the validation set was 0.903 for AA samples and 0.937 for CRC samples. The prognosis of patients with high preoperative ctDNA methylation levels was worse than that of patients with low ctDNA levels (p=0.001 for relapse-free survival and p=0.004 for overall survival).