Epigenetic Liquid Biopsy Enables Universal Mutation-Agnostic Molecular Surveillance for High-Risk Neuroblastoma.

Methylation-based liquid biopsy (Oxford Nanopore WGS): neuroblastoma-specific differentially methylated regions detectable in cfDNA, independent of mutations

Liquid biopsy in paediatric solid tumors is limited by low mutational burden and the absence of trackable drivers. The authors develop a mutation-agnostic, methylation-based surveillance framework for high-risk neuroblastoma. Using Oxford Nanopore genome sequencing of tumors, they compare methylation profiles to an atlas of normal cell types and identify 72 neuroblastoma-specific differentially methylated regions detectable in cfDNA. A 25-marker panel enables quantitative estimation of tumor-derived cfDNA; neuroblastoma-derived cfDNA is detected at diagnosis and relapse.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

A promising approach for non-invasive surveillance of neuroblastoma, a tumor poor in trackable mutations where standard liquid biopsies fail. Methylation offers an elegant universal signal; prospective validation of clinical performance (residual disease sensitivity, lead time to relapse) is still needed before routine use.

Analysis by Dr Thibaut Benquey