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Application of Molecular or Genetic Markers in Liquid Biopsy for...
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Application of Molecular or Genetic Markers in Liquid Biopsy for Urogenital Cancers

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: 25 January 2027 | Viewed by 3949

Editor

Prof. Dr. Guorong Li

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Guest Editor
Department of Urology, North Hospital, CHU Saint-Etienne, 42100 Saint-Etienne, France
Interests: molecular markers; liquid biopsy; renal cell carcinomas; liquid biopy technology; urological cancer
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Urogenital cancers account for about 25% of total cancer incidence globally. Currently, the clinical diagnosis of urogenital cancer is usually established with a tissue biopsy after clinical examinations. A tissue biopsy is invasive, expensive, and painful for patients. A liquid biopsy is the sampling and analysis of non-solid tissue, such as blood, urine, and other biological fluids. During the last decade, molecular or genetic markers have been widely studied in urogenital cancers. In the meantime, liquid biopsy biotechnologies have been developing rapidly. Liquid biopsy has contributed to the progress of personalized medicine for cancer patients. The application of molecular or genetic markers in liquid biopsy for the management of urogenital cancers is an urgent task. New biotechnologies of liquid biopsy will complement the tissue biopsy towards precision medicine for urogenital cancer patients. The purpose of this Special Issue is to provide a platform for a wide range of reviews, research articles, short communications, and technical notes related to molecular or genetic studies in liquid biopsy for urogenital cancers. We particularly encourage submissions of original works that apply innovative biotechnologies to study molecular or genetic markers in extracellular vesicles (exosomes) to enhance the application of liquid biopsy for urogenital cancers. Clinical practice of liquid biopsy biomarkers could innovate patient management by enabling earlier diagnosis and personalized treatment strategies for urogenital cancer patients.

Prof. Dr. Guorong Li
Guest Editor

Manuscript Submission Information

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Keywords

  • liquid biopsy
  • extracellular vesicle
  • exosome
  • biotechnology
  • precision medicine/personalized medicine
  • diagnosis/screening
  • urogenital cancer

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Published Papers (2 papers)

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14 pages, 3091 KB  
Article
Evaluating the Urinary Exosome MicroRNA Profile in Prostate Cancer
by Beatriz Walter Rodriguez, Christopher J. Ricketts, Baris Turkbey, Peter A. Pinto and Maria J. Merino
Genes 2026, 17(7), 802; https://doi.org/10.3390/genes17070802 - 15 Jul 2026
Viewed by 402
Abstract
Background/Objectives: Prostate cancer is the second most frequent cancer among men and the 5th leading cause of cancer death among men worldwide. Identification of urine-derived biomarkers, such as exosomal miRNAs, in liquid biopsies for prostate cancer could be very beneficial for screening [...] Read more.
Background/Objectives: Prostate cancer is the second most frequent cancer among men and the 5th leading cause of cancer death among men worldwide. Identification of urine-derived biomarkers, such as exosomal miRNAs, in liquid biopsies for prostate cancer could be very beneficial for screening and active surveillance. Methods: Urine was collected from 42 patients with biopsy-proven evidence of prostate cancer and exosomes were extracted. Transcriptomic analysis was performed on the urine-derived exosomal miRNA and compared to the urine-derived exosomal miRNA profiles from 10 normal control donors and 15 von Hippel-Lindau (VHL) syndrome patients with clear cell renal cell carcinoma (ccRCC). Results: Urine-derived exosomal miRNA profiles of prostate patients were significantly different from normal control individuals. Significantly increased expression of miR-122-5p and decreased expression of miR-125-5p and miR-16-5p were observed in the urine-derived exosomes from prostate cancer patients. Significant upregulation of miR-30a-5p and downregulation of miR-320-5p, miR-320b, and miR-320c were observed in the urine-derived exosomes from both prostate cancer patients and VHL patients with ccRCC, indicating these miRNAs could be non-specific markers of urological cancer. Increased expression of miR-10a-5p and miR-30e-5p or miR-532-5p and miR-206 correlated with the presence of either extracapsular or perineural invasion, respectively. Conclusions: This study highlights the potential for urine-derived exosomal miRNA profiles to identify the presence of prostate cancer and predict clinical features, additionally showing that miRNA signals could be non-specific markers of urologic cancer types. Further validation studies are necessary to demonstrate the utility of urine-derived exosomal miRNA profiles as biomarkers for diagnosis or prognosis in prostate cancer. Full article
(This article belongs to the Special Issue Application of Molecular or Genetic Markers in Liquid Biopsy for Urogenital Cancers)
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Review

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22 pages, 321 KB  
Review
Molecular and Genetic Biomarkers in Prostate Cancer Active Surveillance: Recent Developments and Future Perspectives
by Stephanie F. Smith, Robert D. Mills, Colin S. Cooper and Daniel S. Brewer
Genes 2026, 17(1), 71; https://doi.org/10.3390/genes17010071 - 6 Jan 2026
Cited by 1 | Viewed by 2937
Abstract
Background/Objectives: Active surveillance (AS) has become the standard of care for many men with localised prostate cancer, aiming to avoid the overtreatment of indolent disease while maintaining oncological safety. Despite improvements in diagnostic techniques, misclassification at diagnosis and the limited ability to predict [...] Read more.
Background/Objectives: Active surveillance (AS) has become the standard of care for many men with localised prostate cancer, aiming to avoid the overtreatment of indolent disease while maintaining oncological safety. Despite improvements in diagnostic techniques, misclassification at diagnosis and the limited ability to predict disease progression remain major challenges in AS. Novel molecular and genetic biomarkers, assessed through liquid biopsy approaches, offer the potential to refine patient selection and support risk-adapted monitoring in AS. Methods: We conducted a narrative review of biomarkers in the context of AS for prostate cancer, framing the discussion in terms of the challenges in AS and how biomarkers may address these. PubMed and Embase were searched for English-language peer-reviewed studies published between 2000 and 2025. International guidelines (AUA, EAU, NCCN, NICE) and reference lists were reviewed manually. Priority was given to large prospective cohorts, meta-analyses, and high-impact publications. Results: Blood-based assays such as PHI and the 4K score, urinary tests including ExoDx and SelectMDx, and the Prostate Urine Risk (PUR) signatures have all shown associations with disease progression or decisions to undergo earlier treatment. However, studies are often small, use surrogate endpoints, and lack validation in MRI-integrated cohorts. Biomarkers appear most informative in men with Gleason Grade 1 (GG1) disease, while evidence in GG2 cohorts is limited. Cost-effectiveness, heterogeneity of endpoints, and uncertainty in managing discordant biomarker and MRI results remain barriers to clinical adoption. Conclusions: Molecular and genetic biomarkers show promise for improving AS by reducing diagnostic misclassification and enhancing prediction of progression. Future research should define clinically relevant cut-offs, clarify integration with MRI, and evaluate longitudinal use. Demonstrating utility in contemporary cohorts could enable the development of biomarker-guided, personalised AS that maintains safety while minimising harm. Full article
(This article belongs to the Special Issue Application of Molecular or Genetic Markers in Liquid Biopsy for Urogenital Cancers)
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