ArticleCancer science2021
Detection of von Hippel-Lindau gene mutation in circulating cell-free DNA for clear cell renal cell carcinoma.
Article in Cancer science, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Integrated Transcriptomic Analysis Identifies a Six-Gene Prognostic Signature, RNA Editing Derived Neoantigens, and miRNA Regulatory Networks in Renal Cell Carcinoma.Iranian journal of medical sciences · 2026Article
- Review
- A Scoping Review of Population Diversity in the Common Genomic Aberrations of Clear Cell Renal Cell Carcinoma.Oncology · 2025Article
- Microfluidics and molecular diagnostics in renal cell carcinoma: advances, challenges, and future directions.Frontiers in oncology · 2025Review
- Review
- Characterization of extrachromosomal circular DNAs in plasma of patients with clear cell renal cell carcinoma.World journal of urology · 2024Article
- Unlocking Precision Medicine: Liquid Biopsy Advancements in Renal Cancer Detection and Monitoring.International journal of molecular sciences · 2024Review
- Diagnostic liquid biopsy biomarkers in renal cell cancer.Nature reviews. Urology · 2024Review
- Liquid biopsy for Renal Cell Carcinoma: A comprehensive review of techniques, applications, and future prospects.Kidney cancer (Clifton, Va.) · 2024Article
- Clinical Significance of Extracellular Vesicles in Prostate and Renal Cancer.International journal of molecular sciences · 2023Review
- Cancer associated macrophage-like cells in metastatic renal cell carcinoma predicts for poor prognosis and tracks treatment response in real time.Scientific reports · 2023Article
- Liquid biopsy at the frontier in renal cell carcinoma: recent analysis of techniques and clinical application.Molecular cancer · 2023Review
- Matched Molecular Profiling of Cell-Free DNA and Tumor Tissue in Patients With Advanced Clear Cell Renal Cell Carcinoma.JCO precision oncology · 2022Article
- Detection of von Hippel-Lindau gene mutation in circulating cell-free DNA for clear cell renal cell carcinoma.Cancer science · 2021Article
- The Diagnostic Value of Serum Ang, VEGF, and CRP Combined with the Chinese Medicine Antitumor Formula in the Treatment of Advanced Renal Carcinoma.Evidence-based complementary and alternative medicine : eCAM · 2021Article
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The therapeutic landscape of metastatic clear cell renal cell carcinoma (ccRCC) has rapidly expanded, and there is an urgent need to develop noninvasive biomarkers that can select an optimal therapy or evaluate the response in real time. To evaluate the clinical utility of circulating tumor DNA (ctDNA) analysis in ccRCC, we established a highly sensitive assay to detect mutations in von Hippel-Lindau gene (VHL) using a combination of digital PCR and multiplex PCR-based targeted sequencing. The unique assay could detect VHL mutations with a variant allele frequency (VAF) <1.0%. Further, we profiled the mutation status of VHL in 76 cell-free DNA (cfDNA) and 50 tumor tissues from 56 patients with ccRCC using the assay. Thirteen VHL mutations were identified in cfDNA from 12 (21.4%) patients with a median VAF of 0.78% (range, 0.13%-4.20%). Of the 28 patients with VHL mutations in matched tumor tissues, eight (28.6%) also had VHL mutation in cfDNA with a median VAF of 0.47% (range, 0.13%-2.88%). In serial ctDNA analysis from one patient, we confirmed that the VAF of VHL mutation changed consistent with tumor size by radiographic imaging during systemic treatment. In conclusion, VHL mutation in cfDNA was detected only in a small number of patients even using the highly sensitive assay; nevertheless, we showed the potential of ctDNA analysis as a novel biomarker in ccRCC.
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