Figure 1 from Epigenetic Liquid Biopsy Enables Universal Mutation-Agnostic Molecular Surveillance for High-Risk Neuroblastoma
Year: 2026
Type: other
Abstract: Integrated genetic and epigenetic profiling of neuroblastoma using whole-genome ONT sequencing. A, Whole-genome ONT sequencing of tumor DNA provides simultaneous genetic and epigenetic information, illustrated here for patient T6. The data enable detection of large-scale genetic alterations, shown as a CNV profile at the top, and identification of DMRs relative to control samples (bottom). Bottom, Two representative promoter-associated DMRs: the newly identified IRF6 promoter on chromosome 1 and the previously reported KRT19 promoter on chromosome 17. Individual native DNA molecules aligned to each locus are displayed, with CpG sites colored red (methylated) or blue (unmethylated). B, Oncoplot: Major genetic alterations associated with neuroblastoma were identified by whole-genome ONT sequencing and summarized across the seven sequenced tumors. The oncoplot displays clinically relevant genomic events, including gene amplifications, mutations, deletions, chromosomal copy-number aberrations, and clinical disease course annotations. C, PCA of genome-wide DNA methylation profiles from the seven neuroblastoma tumors reveals clustering according to key genomic alterations, including MYCN amplification and 11q deletion, ALK mutation, and SWI/SNF remodeling, with control samples forming a distinct cluster. D, Neuroblastoma DMR heatmap: DNA methylation data from the seven neuroblastoma tumors were compared against a reference atlas comprising methylomes from 36 healthy tissue types to identify pan-neuroblastoma–specific DMRs. Methylation levels across the 72 identified DMRs are shown in the heatmap, with colors indicating average methylation levels (red, high methylation; blue, low methylation); values represent group-level averages for each column, arranged in rows representing from top to bottom: the seven sequenced neuroblastoma tumors, PBL samples as healthy controls, public methylation data from other advanced tumor types, and previously published neuroblastoma and healthy control methylomes generated using Illumina EPIC arrays. Neuroblastoma DMRs not interrogated by the EPIC array are shown in gray. NBL, neuroblastoma.
Language: English
Subfield: Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
OpenAlex ID: W7213221952