Figure 3 from Epigenetic Liquid Biopsy Enables Universal Mutation-Agnostic Molecular Surveillance for High-Risk Neuroblastoma
Year: 2026
Type: other
Abstract: Neuroblastoma methylation markers enable disease monitoring and longitudinal follow-up. A, Representative CNV profiles derived from cfDNA samples collected at diagnosis from three patients with neuroblastoma with varying tumor fractions (TF%). From top to bottom, examples are shown for patients with high, intermediate, and low TF%. B, Tumor fraction (TF%) estimates obtained by methylation-based deconvolution using the 25 selected meNBL markers, shown for cfDNA samples collected at different disease stages: diagnosis (n = 11), remission (n = 6), relapse (n = 6), and healthy individuals (n = 8). Each dot represents an individual cfDNA sample, and the y-axis represents TF%. Arrows link representative TF% values in (B) to the corresponding CNV profiles shown in A. C and D, Longitudinal monitoring of neuroblastoma in two representative patients: a patient with MYCN amplification (C) and a patient without MYCN amplification (D). The x-axis denotes days from diagnosis. The left y-axis shows normalized values of established neuroblastoma disease markers, including MYCN copy number and urinary catecholamine metabolites [vanillylmandelic acid (VMA)/homovanillic acid (HVA)]. The right y-axis shows tumor fraction estimates derived from methylation-based deconvolution (NB dcn) using the neuroblastoma marker panel as well as ichorCNA. Blue shaded regions indicate time intervals during which gold-standard MIBG imaging confirmed active disease. In the MYCN-amplified case, methylation-based TF% tracking detected disease with sensitivity comparable with MYCN-based markers, whereas in the non-MYCN case, methylation-based detection mirrored imaging-based disease status.
Language: English
Subfield: Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
OpenAlex ID: W7213241789