Cell-free DNA (cfDNA) fragmentomes predict tumor burden in metastatic colorectal cancer (mCRC).

摘要: 3541Background: Measurement of plasma mutant allele fraction (MAF) in patients with cancer provides prognostic information, but this approach typically relies on prior tumor tissue analyses or knowledge of specific mutations. There is a clinical need to develop rapid and accurate noninvasive plasma-only approaches to estimate disease burden dynamics. Comprehensive genome-wide analyses of cfDNA fragmentomes has become a useful tool for noninvasive cancer characterization. Here we present a novel application to predict MAF from genome-wide fragmentation-related profiles (fMAF) as a prognostic marker in mCRC patients with initially unresectable liver-only metastases enrolled in the phase III CAIRO5 study (NCT02162563). Methods: 693 longitudinal plasma cfDNA samples were obtained from patients with RAS/BRAF-mutant mCRC (training arm, N = 78) and patients with RAS/BRAF wild-type mCRC …