ArticleScientific reports2018
Urinary Exosomal and cell-free DNA Detects Somatic Mutation and Copy Number Alteration in Urothelial Carcinoma of Bladder.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.
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Who cites it
46 citing papers in PubMed, 64 citations in OpenAlex.
- Sex differences in urinary extracellular vesicles originating from the genitourinary system in health and disease.American journal of physiology. Renal physiology · 2026Review
- Urinary DNA Extraction in Uro-Oncology and Selected Non-Urological Malignancies: A Narrative Review.Journal of clinical medicine · 2026Review
- Utility of Urinary Extracellular Vesicles for Colorectal Cancer: Comparison of DNA Quality and MRD Detection.Cancer science · 2026Article
- Review
- Role of Exosomes in Cardiovascular Disease: A Key Regulator of Intercellular Communication in Cardiomyocytes.ACS omega · 2025Review
- Unravelling the Significance of Extracellular Vesicle-Associated DNA in Cancer Biology and Its Potential Clinical Applications.Journal of extracellular vesicles · 2025Review
- Cell-free Tumor DNA: a Promising Technology for Diagnosis, Surveillance and Therapeutic Decision in Urothelial Carcinoma of the Bladder.Current oncology reports · 2025Review
- Unleashing the power of urine‑based biomarkers in diagnosis, prognosis and monitoring of bladder cancer (Review).International journal of oncology · 2025Review
- The detection, biological function, and liquid biopsy application of extracellular vesicle-associated DNA.Biomarker research · 2024Review
- From Detection to Cure - Emerging Roles for Urinary Tumor DNA (utDNA) in Bladder Cancer.Current oncology reports · 2024Review
- Advances in Liquid Biopsy for Diagnosis of Bladder Cancer.International neurourology journal · 2024Article
- Novel urine cell-free DNA methylation markers for hepatocellular carcinoma.Scientific reports · 2023Article
- Exosome, the glass slipper for Cinderella of cancer-bladder cancer?Journal of nanobiotechnology · 2023Review
- Circulating and urinary tumour DNA in urothelial carcinoma - upper tract, lower tract and metastatic disease.Nature reviews. Urology · 2023Review
- Review
- The Current Progress and Future Options of Multiple Therapy and Potential Biomarkers for Muscle-Invasive Bladder Cancer.Biomedicines · 2023Review
- Article
- Extracellular vesicle-bound DNA in urine is indicative of kidney allograft injury.Journal of extracellular vesicles · 2022Article
- DNA in extracellular vesicles: from evolution to its current application in health and disease.Cell & bioscience · 2022Review
- Beyond liquid biopsy: Toward non-invasive assays for distanced cancer diagnostics in pandemics.Biosensors & bioelectronics · 2022Review
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Urothelial bladder carcinoma (UBC) is characterized by a large number of genetic alterations. DNA from urine is a promising source for liquid biopsy in urological malignancies. We aimed to assess the availability of cell-free DNA (cfDNA) and exosomal DNA (exoDNA) in urine as a source for liquid biopsy in UBC. We included 9 patients who underwent surgery for UBC and performed genomic profiling of tumor samples and matched urinary cfDNA and exoDNA. For mutation analysis, deep sequencing was performed for 9 gene targets and shallow whole genome sequencing (sWGS) was used for the detection of copy number variation (CNV). We analyzed whether genetic alteration in tumor samples was reflected in urinary cfDNA or exoDNA. To measure the similarity between copy number profiles of tumor tissue and urinary DNA, the Pearson's correlation coefficient was calculated. We found 17 somatic mutations in 6 patients. Of the 17 somatic mutations, 14 and 12 were identified by analysis of cfDNA and exoDNA with AFs of 56.2% and 65.6%, respectively. In CNV analysis using sWGS, although the mean depth was 0.6X, we found amplification of MDM2, ERBB2, CCND1 and CCNE1, and deletion of CDKN2A, PTEN and RB1, all known to be frequently altered in UBC. CNV plots of cfDNA and exoDNA showed a similar pattern with those from the tumor samples. Pearson's correlation coefficients of tumor vs. cfDNA (0.481) and tumor vs. exoDNA (0.412) were higher than that of tumor vs. normal (0.086). We successfully identified somatic mutations and CNV in UBC using urinary cfDNA and exoDNA. Urinary exoDNA could be another source for liquid biopsy. Also, CNV analysis using sWGS is an alternative strategy for liquid biopsy, providing data from the whole genome at a low cost.
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