ArticleMolecular cancer therapeutics2021
A Comprehensive Circulating Tumor DNA Assay for Detection of Translocation and Copy-Number Changes in Pediatric Sarcomas.
Article in Molecular cancer therapeutics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 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
- Evolution of AR and Non-AR Alterations in ctDNA of Patients with Metastatic Prostate Cancer Treated in the Phase III Alliance A031201 Trial.Clinical cancer research : an official journal of the American Association for Cancer Research · 2026Trial
- AR alterations inform circulating tumor DNA detection in metastatic castration resistant prostate cancer patients.Nature communications · 2024Trial
- Clustered structural variant hotspots enable oncogenic addiction and plasticity in osteosarcoma.bioRxiv : the preprint server for biology · 2026Article
- Current Evidence for Circulating Tumor DNA in Sarcoma: Challenges and Opportunities for Clinical Application.Journal of surgical oncology · 2026Review
- Signals Alongside Scans: A Genomics-Guided Framework for Liquid Biopsy in Bone and Soft-Tissue Sarcomas.Cells · 2026Review
- Predicting immunotherapy benefit in leiomyosarcoma through active chromatin cfDNA profiling.NPJ precision oncology · 2026Article
- Molecular residual disease assessment in colorectal and bladder cancer by somatic structural variant analysis of cell-free DNA whole-genome sequencing data.Journal of translational medicine · 2026Article
- Patient-specific sequencing panels enable sensitive circulating tumor DNA analysis in rhabdomyosarcoma independent of genetic profile.NPJ precision oncology · 2025Article
- Article
- Review
- The Role of Chronic Inflammation in Pediatric Cancer.Cancers · 2025Review
- Liquid Biopsy for Spinal Tumors: On the Frontiers of Clinical Application.Global spine journal · 2025Article
- Article
- Monitoring Response Using Circulating Tumor DNA in Undifferentiated Pleomorphic Sarcoma: A Case Report.Cureus · 2024Article
- A comprehensive overview of liquid biopsy applications in pediatric solid tumors.NPJ precision oncology · 2024Review
- Insights into Personalized Care Strategies for Wilms Tumor: A Narrative Literature Review.Biomedicines · 2024Review
- Quantification of cerebrospinal fluid tumor DNA in lung cancer patients with suspected leptomeningeal carcinomatosis.NPJ precision oncology · 2024Article
- Therapeutic Approaches to Increase the Survival Rate of Cancer Patients in the Younger and Older Population.Current aging science · 2024Review
- Sequential genomic analysis using a multisample/multiplatform approach to better define rhabdomyosarcoma progression and relapse.NPJ precision oncology · 2023Article
Corrections and comments
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Authors and funding
23 authors at 2 institutions in 1 country.
Funding
Abstract
Most circulating tumor DNA (ctDNA) assays are designed to detect recurrent mutations. Pediatric sarcomas share few recurrent mutations but rather are characterized by translocations and copy-number changes. We applied Cancer Personalized Profiling by deep Sequencing (CAPP-Seq) for detection of translocations found in the most common pediatric sarcomas. We also applied ichorCNA to the combined off-target reads from our hybrid capture to simultaneously detect copy-number alterations (CNA). We analyzed 64 prospectively collected plasma samples from 17 patients with pediatric sarcoma. Translocations were detected in the pretreatment plasma of 13 patients and were confirmed by tumor sequencing in 12 patients. Two of these patients had evidence of complex chromosomal rearrangements in their ctDNA. We also detected copy-number changes in the pretreatment plasma of 7 patients. We found that ctDNA levels correlated with metastatic status and clinical response. Furthermore, we detected rising ctDNA levels before relapse was clinically apparent, demonstrating the high sensitivity of our assay. This assay can be utilized for simultaneous detection of translocations and CNAs in the plasma of patients with pediatric sarcoma. While we describe our experience in pediatric sarcomas, this approach can be applied to other tumors that are driven by structural variants.
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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.