5-Hydroxymethylcytosines in circulating cell-free DNA reveal a diagnostic biomarker for glioma.

Gliomas typically have unfavorable prognosis, due to late detection and interventions. However, effective biomarkers for early glioma diagnosis based on 5-hydroxymethylcytosines (5 hm C) in circulating cell-free DNA (cfDNA) are not currently available. 5 hm C profiles in GSE132118 set were subjected for establishment of diagnostic model using the LASSO (least absolute shrinkage and selection operator) algorithm. The 5 hm C-based models demonstrated great potency in differentiating healthy subjects from gliomas, with area under the curves (AUCs) > 0.91 in the training and validation sets. Moreover, the indicator performed well in combination with clinicopathological characteristics to differentiate glioblastomas (GBMs) from lower grade glioma (LGGs). Enrichment analysis on 5 hm C profiles displayed great correlation with glioma pathophysiology. The 5 hm C-derived biomarker might act as an effective and non-invasive measure in glioma screening.