Evidence map›Paper›PMID 40386554›Full record

ArticleFrontiers in oncology2025

Comparative analysis of whole-genome sequencing of tumor and cfDNA in a neuroblastoma patient: a case report.

Susanne Fransson, Kleopatra Georgantzi, Anna Djos, Jennie Gaarder, Johanna Svensson, Vimala Anthonydhason, Per Kogner, Tommy Martinsson, Ganesh Umapathy

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in oncology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. A comprehensive survey of genetic variants in neuroblastoma.Journal, genetic engineering & biotechnology · 2026
    Article
  2. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Susanne FranssonDepartment of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Kleopatra GeorgantziChildhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, and Pediatric Oncology, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden.
Anna DjosDepartment of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Jennie GaarderDepartment of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Johanna SvenssonDepartment of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Vimala AnthonydhasonSchool of Biomedical Sciences and Pharmacy, College of Health, The University of Newcastle, Newcastle, NSW, Australia.
Per KognerChildhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, and Pediatric Oncology, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden.
Tommy MartinssonDepartment of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Ganesh UmapathyDepartment of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

High-risk neuroblastoma (NB) poses significant challenges in pediatric oncology due to its resistance to conventional therapies, leading to relapse and poor prognosis. Copy number variations (CNVs) are strong prognostic factors in NB, prompting exploration into alternative methods for CNV profiling. We conducted whole-genome sequencing (WGS) of the circulating cell-free DNA (cfDNA) from a patient with NB and compared the WGS of the primary and relapsed tumor tissue. Our analysis revealed concordance between the somatic single nucleotide variants (SNVs), insertions and deletions (indels), and CNVs identified in the cfDNA and tumor WGS. Notably, WGS detected numerical chromosome imbalances, large and focal structural aberrations including amplifications in

Indexed as

circulating cell free DNA (cfDNA)liquid biopsyMET (c-MET)neuroblastomawhole genome sequencing (WGS)

Identifiers

PMID40386554
PMCPMC12081241

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.