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Detection of Targetable Genetic Abnormalities in Neuroblastoma Circulating Tumour DNA.

Author information

Affiliations

  • 1. Wolfson Childhood Cancer Research Centre, Translational & Clinical Research Institute, Newcastle University Centre for Cancer, Herschel Building, Newcastle upon Tyne NE1 7RU, UK.
      Authors
    • Danilenko M 1
    • Nath S 1, 2
    • Gordon F 1
    • Merugu S 1
    • Allinson LM 1
    • Tweddle DA 1
    (6 authors)
  • 2. Newcastle Genetics Lab., Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4EP, UK.
      Authors
    • Nath S 1, 2
    • Baines J 2
    • Potts A 2
    • Collins B 2
    • Goodman A 2
    • Kidman SE 2
    • McAnulty C 2
    (7 authors)
  • 3. Translational & Clinical Research Institute, Newcastle University Centre for Cancer, Paul O'Gorman Building, Newcastle upon Tyne NE2 4HH, UK.
      Authors
    • Jamieson D 3
    (1 author)

International Journal of Molecular Sciences, 27 Sep 2025, 26(19):9466
https://doi.org/10.3390/ijms26199466 PMID: 41096734 PMCID: PMC12524965

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Abstract 

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.

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    Funding 

    Funders who supported this work.

    Blood Cancer UK (1)

    • Grant ID: CRCPSC-Dec21\100002

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    Cancer Research UK (2)

    • Grant ID: CRCPSC-Dec21\100002

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    • Grant ID: CTQQR-2021\100003

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    Little Princess Trust (1)

    • Grant ID: CCLGA 2016 08

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