Personalized circulating tumor DNA analysis for sensitive disease monitoring and detection of relapse in neuroblastoma.

ABSTRACT: Circulating tumor DNA (ctDNA) has shown potential as a non-invasive tumor biomarker in neuroblastoma. Previous studies used generic assays for detection of selected predefined oncogenic variants as markers of ctDNA, which limits the sensitivity and excludes a subset of patients from analysis. Here we assessed patient-specific ctDNA analysis for treatment evaluation and detection of relapse in neuroblastoma. We generated personalized sequencing panels targeting 10 tumor-specific single nucleotide variants (SNVs) for each patient and performed ctDNA analysis of 136 plasma samples collected longitudinally in 13 children with neuroblastoma. ctDNA was detected using ultra-deep next generation sequencing with unique molecular identifiers to eliminate polymerase-induced errors. We found that the

SUBMITTER: Rahmqvist I 

PROVIDER: S-EPMC11600567 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature