Figure 2 from Epigenetic Liquid Biopsy Enables Universal Mutation-Agnostic Molecular Surveillance for High-Risk Neuroblastoma
Year: 2026
Type: other
Abstract: Detection of neuroblastoma markers in cfDNA samples. A, Heatmap showing average DNA methylation levels across the 72 identified DMRs. Rows correspond to individual meNBL markers, and columns represent cfDNA sample groups: matched cfDNA from patients with sequenced tumor tissue, cfDNA from an independent validation cohort of patients with neuroblastoma, and cfDNA from healthy individuals. Colors indicate mean methylation levels (red, high methylation; blue, low methylation). Values represent group-level averages across samples within each category. B, Tumor fraction (TF%) estimates in cfDNA for representative individuals, stratified by clinical and genomic status, using three independent approaches. Columns show TF% estimation based on (left) somatic mutation allele frequencies, applicable only to patients with identifiable tumor mutations; (middle) methylation-based deconvolution using our novel meNBL markers; and (right) CNV-based estimation using ichorCNA. Pie charts depict the relative contribution of tumor-derived cfDNA (orange-red) and nontumor cfDNA fractions. Only the methylation-based approach further resolves the nontumor fraction into cell of origin components.
Language: English
Subfield: Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
OpenAlex ID: W7213240676