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Lookup NU author(s): Dr Marina DanilenkoORCiD, Sharanya Nath, Jack Baines, Freya Gordon, Swathi Merugu, Dr Lisa AllinsonORCiD, Aaron Potts, Angharad Goodman, Dr Samuel Kidman, Dr Ciaron McAnulty, Dr David JamiesonORCiD, Professor Deborah TweddleORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2025 by the authors.Neuroblastoma (NB) is an aggressive childhood cancer requiring intensive multimodal therapies in high-risk (HRNB) patients. Currently, invasive surgical biopsies are required to classify NB risk group and assign treatment based on the tumour genetic profile. Circulating tumour DNA (ctDNA) obtained from blood samples can be used to identify tumour biomarkers. Here we applied targeted next-generation sequencing (tNGS) using a panel of 42 genes to analyse 32 NB ctDNA samples for the presence of single-nucleotide variants and copy number changes from 28 patients in all NB risk groups. In two additional ctDNA samples, droplet digital PCR was used to detect hotspot ALK variants. Pathogenic mutations with a variant allele frequency (VAF) > 1% were identified in 13/32 (41%) ctDNA samples. ALK and PTPN11 were the most frequent, each being detected in 4/32 (13%) samples, together with oncogene amplifications. Targeted NGS of ctDNA detected actionable variants, including those absent in the diagnostic primary tumour due to spatial and temporal heterogeneity. Our findings confirm the usefulness of ctDNA in detecting genetic abnormalities in NB.
Author(s): Danilenko M, Nath S, Baines J, Gordon F, Merugu S, Allinson LM, Potts A, Collins B, Goodman A, Kidman SE, McAnulty C, Jamieson D, Tweddle DA
Publication type: Article
Publication status: Published
Journal: International Journal of Molecular Sciences
Year: 2025
Volume: 26
Issue: 19
Online publication date: 27/09/2025
Acceptance date: 18/09/2025
Date deposited: 28/10/2025
ISSN (print): 1661-6596
ISSN (electronic): 1422-0067
Publisher: MDPI
URL: https://doi.org/10.3390/ijms26199466
DOI: 10.3390/ijms26199466
Data Access Statement: Data is contained within the article. Sequencing data has been deposited in NCBI SRA (BioProject accession number PRJNA928778).
PubMed id: 41096734
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