ArticleJCO precision oncology2022
Molecular Characterization of Circulating Tumor DNA in Pediatric Rhabdomyosarcoma: A Feasibility Study.
Article in JCO precision oncology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- Precision medicine in diagnosis, prognosis, and disease monitoring of bone and soft tissue sarcomas using liquid biopsy: a systematic review.Archives of orthopaedic and trauma surgery · 2025Pooled it
- Current Evidence for Circulating Tumor DNA in Sarcoma: Challenges and Opportunities for Clinical Application.Journal of surgical oncology · 2026Review
- Cell-Free DNA Uncovered Tumor Heterogeneity and Informed Targeted Therapy in a Pediatric Rhabdomyosarcoma.JCO precision oncology · 2026Article
- Clinical Liquid Biopsy Testing for Detection of Actionable Genomic Alterations in Children and Young Adults With Advanced Solid Tumors on the GAIN Study.JCO precision oncology · 2026Article
- Review
- Patient-specific sequencing panels enable sensitive circulating tumor DNA analysis in rhabdomyosarcoma independent of genetic profile.NPJ precision oncology · 2025Article
- Review
- Molecular Targets in Alveolar Rhabdomyosarcoma: A Narrative Review of Progress and Pitfalls.International journal of molecular sciences · 2025Review
- Stratified Medicine Pediatrics: Cell-Free DNA and Serial Tumor Sequencing Identifies Subtype-Specific Cancer Evolution and Epigenetic States.Cancer discovery · 2025Article
- Review
- Article
- A comprehensive overview of liquid biopsy applications in pediatric solid tumors.NPJ precision oncology · 2024Review
- Detection of pretreatment circulating tumor DNA as a biomarker of poor outcome in intermediate-risk rhabdomyosarcoma.Translational pediatrics · 2024Article
- Contemporary preclinical mouse models for pediatric rhabdomyosarcoma: from bedside to bench to bedside.Frontiers in oncology · 2024Article
- [Research progress on circulating tumor DNA as a biomarker for minimal residual disease in solid tumors].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Review
- Sequential genomic analysis using a multisample/multiplatform approach to better define rhabdomyosarcoma progression and relapse.NPJ precision oncology · 2023Article
- Children's Oncology Group's 2023 blueprint for research: Soft tissue sarcomas.Pediatric blood & cancer · 2023Article
- The Future of Precision Oncology.International journal of molecular sciences · 2023Review
- Review
- Targeted locus amplification to develop robust patient-specific assays for liquid biopsies in pediatric solid tumors.Frontiers in oncology · 2023Article
Corrections and comments
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Authors and funding
36 authors at 10 institutions in 5 countries.
Funding
Abstract
purposeRhabdomyosarcomas (RMS) are rare neoplasms affecting children and young adults. Efforts to improve patient survival have been undermined by a lack of suitable disease markers. Plasma circulating tumor DNA (ctDNA) has shown promise as a potential minimally invasive biomarker and monitoring tool in other cancers; however, it remains underexplored in RMS. We aimed to determine the feasibility of identifying and quantifying ctDNA in plasma as a marker of disease burden and/or treatment response using blood samples from RMS mouse models and patients.
methodsWe established mouse models of RMS and applied quantitative polymerase chain reaction (PCR) and droplet digital PCR (ddPCR) to detect ctDNA within the mouse plasma. Potential driver mutations, copy-number alterations, and DNA breakpoints associated with
resultsHuman tumor-derived DNA was detectable in plasma samples from mouse models of RMS and correlated with tumor burden. In patients, ctDNA was detected in 14/18 pretreatment plasma samples with ddPCR and 7/7 cases assessed by sequencing. Levels of ctDNA at diagnosis were significantly higher in patients with unfavorable tumor sites, positive nodal status, and metastasis. In patients with serial plasma samples (n = 18), fluctuations in ctDNA levels corresponded to treatment response.
conclusionComprehensive ctDNA analysis combining high sensitivity and throughput can identify key molecular drivers in RMS models and patients, suggesting potential as a minimally invasive biomarker. Preclinical assessment of treatments using mouse models and further patient testing through prospective clinical trials are now warranted.
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Registered trials
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.