ArticleFrontiers in oncology2021
Clinical Utility of Circulating Tumor DNA in Advanced Rare Cancers.
Article in Frontiers in oncology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Current Advances of Molecular Biomarkers and Liquid Biopsies Techniques in Ovarian Cancer.Cancer medicine · 2026Review
- Predictive Biomarkers in Cancer Immunotherapy: A Narrative Review Across Selected Solid Tumors.Cureus · 2025Review
- Correlation between variant allele frequency and mean tumor molecules with tumor burden in patients with solid tumors.Molecular oncology · 2024Article
- Circulating tumor DNA: toward evolving the clinical paradigm of pancreatic ductal adenocarcinoma.Therapeutic advances in medical oncology · 2023Review
Corrections and comments
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Authors and funding
19 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposePatients with advanced/relapsed rare cancers have few treatment options. Analysis of circulating tumor DNA in plasma may identify actionable genomic biomarkers using a non-invasive approach. PATIENTS AND
methodsRare cancer patients underwent prospective plasma-based NGS testing. Tissue NGS to test concordance was also conducted. Plasma DNA alterations were assessed for incidence, functional impact, therapeutic implications, correlation to survival, and comparison with tissue NGS.
resultsNinety-eight patients were analyzed. Diseases included soft-tissue sarcoma, ovarian carcinoma, and others. Mean turn-around-time for results was 9.5 days. Seventy-six patients had detectable gene alterations in plasma, with a median of 2.8 alterations/patient. Sixty patients had a likely pathogenic alteration. Five received matched-therapy based on plasma NGS results. Two developed known resistance mutations while on targeted therapy. Patients with an alteration having VAF ≥5% had a significantly shorter survival compared to those of lower VAF. Tissue NGS results from eleven of 22 patients showed complete or partial concordance with plasma NGS.
conclusionPlasma NGS testing is less invasive and capable of identifying alterations in advanced rare cancers in a clinically meaningful timeframe. It should be further studied as a prospective enrollment assay in interventional studies for patients with rare advanced stage cancers. CLINICAL REGISTRATION: [https://www.umin.ac.jp/ctr/index-j.htm], identifier UMIN000034394.
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