Szymanski Jeffrey J, Chauhan Pradeep S, Chaudhuri Aadel A
Department of Radiation Oncology, Mayo Clinic, Rochester, Minnesota.
Mayo Clinic Comprehensive Cancer Center, Rochester, Minnesota.
Clin Cancer Res. 2025 Apr 1;31(7):1179-1181. doi: 10.1158/1078-0432.CCR-24-4051.
LINE-1 retrotransposons, comprising 17% of the genome, drive cancer instability through hypomethylation. The Detection of long Interspersed nuclear element Altered Methylation ON plasma DNA (DIAMOND) assay, targeting LINE-1 hypomethylation with bisulfite sequencing of cell-free DNA, achieved AUCs of 88% to 100% across six cancer types, surpassing mutation-based diagnostics and suggesting utility in early cancer detection and management. See related article by Michel et al., p. 1275.
LINE-1反转录转座子占基因组的17%，通过低甲基化驱动癌症不稳定性。血浆DNA中长散在核元件甲基化改变的检测（DIAMOND）检测法，通过对游离DNA进行亚硫酸氢盐测序来靶向LINE-1低甲基化，在六种癌症类型中实现了88%至100%的曲线下面积（AUC），超过了基于突变的诊断方法，并表明其在早期癌症检测和管理中的效用。见米歇尔等人的相关文章，第1275页。
