ArticleBMC cancer2020
Clinical value of next generation sequencing of plasma cell-free DNA in gastrointestinal stromal tumors.
Article in BMC cancer, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled 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.
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.
Who cites it
32 citing papers in PubMed, 1 synthesis or guideline pooled it, 51 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
- ctDNA as a Molecular Biomarker in the Phase II Trial of Imatinib plus Binimetinib in Patients with Advanced Gastrointestinal Stromal Tumor.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Trial
- Ripretinib versus sunitinib in gastrointestinal stromal tumor: ctDNA biomarker analysis of the phase 3 INTRIGUE trial.Nature medicine · 2024Trial
- Circulating tumor DNA analysis of the phase III VOYAGER trial: KIT mutational landscape and outcomes in patients with advanced gastrointestinal stromal tumor treated with avapritinib or regorafenib.Annals of oncology : official journal of the European Society for Medical Oncology · 2023Trial
- Trial
- Neoadjuvant Imatinib Therapy in Rectal Gastrointestinal Stromal Tumors: A Comprehensive Narrative Review of Tumor Downsizing, Sphincter Preservation, Transanal Surgical Platforms, Functional Outcomes, and Survival.Journal of gastrointestinal cancer · 2026Review
- Emerging mechanisms of kinase inhibitor escape and clinical implications of ponatinib in advanced gastrointestinal stromal tumor.Journal of gastrointestinal oncology · 2026Article
- Blood-based biomarkers in soft tissue sarcoma: Implications for immune checkpoint inhibitor therapy.International journal of cancer · 2025Review
- [Is the adjuvant administration of imatinib more meaningful over 3 or 6 years in patients with high-risk for recurrent GIST?]Chirurgie (Heidelberg, Germany) · 2025Article
- Review
- Case Report: Dramatic response to entritinib in a patient with gastrointestinal stromal tumor positive forFrontiers in oncology · 2025Article
- Monitoring Response Using Circulating Tumor DNA in Undifferentiated Pleomorphic Sarcoma: A Case Report.Cureus · 2024Article
- Levels of circulating tumor DNA correlate with tumor volume in gastro-intestinal stromal tumors: an exploratory long-term follow-up study.Molecular oncology · 2024Article
- Pilot Study by Liquid Biopsy in Gastrointestinal Stromal Tumors: Analysis ofInternational journal of molecular sciences · 2024Article
- Clinical utility of circulating tumor DNA sequencing with a large panel in patients with advanced soft-tissue sarcomas.Cancer communications (London, England) · 2023Article
- Development of Highly Sensitive Digital Droplet PCR for Detection of cKIT Mutations in Circulating Free DNA That Mediate Resistance to TKI Treatment for Gastrointestinal Stromal Tumor (GIST).International journal of molecular sciences · 2023Article
- Molecular Mechanisms of Gastrointestinal Stromal Tumors and Their Impact on Systemic Therapy Decision.Cancers · 2023Review
- [The role of circulating tumor DNA in the diagnosis and prognosis of hepatocellular carcinoma].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2022Article
- Plasma Sequencing for Patients with GIST-Limitations and Opportunities in an Academic Setting.Cancers · 2022Article
- Gastrointestinal Stromal Tumors: What Is the Best Sequence of TKIs?Current treatment options in oncology · 2022Review
Corrections and comments
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Authors and funding
21 authors at 9 institutions in 3 countries.
Funding
Abstract
backgroundGastrointestinal stromal tumor (GIST) initiation and evolution is commonly framed by KIT/PDGFRA oncogenic activation, and in later stages by the polyclonal expansion of resistant subpopulations harboring KIT secondary mutations after the onset of imatinib resistance. Thus, circulating tumor (ct)DNA determination is expected to be an informative non-invasive dynamic biomarker in GIST patients.
methodsWe performed amplicon-based next-generation sequencing (NGS) across 60 clinically relevant genes in 37 plasma samples from 18 GIST patients collected prospectively. ctDNA alterations were compared with NGS of matched tumor tissue samples (obtained either simultaneously or at the time of diagnosis) and cross-validated with droplet digital PCR (ddPCR).
resultsWe were able to identify cfDNA mutations in five out of 18 patients had detectable in at least one timepoint. Overall, NGS sensitivity for detection of cell-free (cf)DNA mutations in plasma was 28.6%, showing high concordance with ddPCR confirmation. We found that GIST had relatively low ctDNA shedding, and mutations were at low allele frequencies. ctDNA was detected only in GIST patients with advanced disease after imatinib failure, predicting tumor dynamics in serial monitoring. KIT secondary mutations were the only mechanism of resistance found across 10 imatinib-resistant GIST patients progressing to sunitinib or regorafenib.
conclusionsctDNA evaluation with amplicon-based NGS detects KIT primary and secondary mutations in metastatic GIST patients, particularly after imatinib progression. GIST exhibits low ctDNA shedding, but ctDNA monitoring, when positive, reflects tumor dynamics.
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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.