Utilization of Liquid Biopsy in Cancer Diagnosis and Management 2025

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: 31 March 2026 | Viewed by 4764

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Department of Laboratory Medicine & Pathology, Division of Anatomical Pathology, Children’s Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON K1H 8L1, Canada
Interests: gastrointestinal/biliary diseases; metabolic diseases; congenital heart disease; mitochondrial DNA-related cardiomyopathies; carcinogenesis (bone/liver)
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Dear Colleagues,

Precision medicine has evolved in the last decade, with ongoing diagnostic and prognostic procedures improvements. Therapeutic protocols have been established, and healthcare institutions and national institutes of health have dramatically changed patient outcomes. The desire to minimize the amount of tissue needed for precision medicine procedures expanded the protocols from peripheral blood for the analysis of cell-free circulating tumor DNA to RNA, circulating tumor cells (CTCs), extracellular vesicles (EVs), and even tumor-educated platelets (TEPs). Next-generation sequencing (NGS) and nanotechnologies are changing our approach to cancer and non-cancerous clinical settings. The College of American Pathologists, of which one of the authors is a house delegate, promotes further the capillarization of liquid biopsy in peripheral rather than central clinical pathology laboratories. We welcome any submissions supporting this technique in the third decade of the 21st century.

Prof. Dr. Consolato M. Sergi
Guest Editor

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Keywords

  • liquid biopsy
  • precision medicine
  • cancer diagnostics
  • nanotechnologies
  • markers

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Published Papers (2 papers)

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Review

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16 pages, 23268 KB  
Review
Current Biomarkers in Non-Small Cell Lung Cancer—The Molecular Pathologist’s Perspective
by Konrad Steinestel and Annette Arndt
Diagnostics 2025, 15(5), 631; https://doi.org/10.3390/diagnostics15050631 - 5 Mar 2025
Cited by 2 | Viewed by 3693
Abstract
Non-small cell lung cancer (NSCLC) is the leading cause of cancer-related mortality worldwide. Advances in tissue-based biomarkers have significantly enhanced diagnostic and therapeutic approaches in NSCLC, enabling precision medicine strategies. This review provides a comprehensive analysis of the molecular pathologist’s practical approach to [...] Read more.
Non-small cell lung cancer (NSCLC) is the leading cause of cancer-related mortality worldwide. Advances in tissue-based biomarkers have significantly enhanced diagnostic and therapeutic approaches in NSCLC, enabling precision medicine strategies. This review provides a comprehensive analysis of the molecular pathologist’s practical approach to assessing NSCLC biomarkers across various specimen types (liquid biopsy, broncho–alveolar lavage, transbronchial biopsy/endobronchial ultrasound-guided biopsy, and surgical specimen), including challenges such as biological heterogeneity and preanalytical variability. We discuss the role of programmed death ligand 1 (PD-L1) immunohistochemistry in predicting immunotherapy response, the practice of histopathological tumor regression grading after neoadjuvant chemoimmunotherapy, and the application of DNA- and RNA-based techniques for detecting actionable molecular alterations. Finally, we emphasize the critical need for quality management to ensure the reliability and reproducibility of biomarker testing in NSCLC. Full article
(This article belongs to the Special Issue Utilization of Liquid Biopsy in Cancer Diagnosis and Management 2025)
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12 pages, 933 KB  
Case Report
Liquid Biopsy and Automated Next-Generation Sequencing: Achieving Results in 27 Hours Within a Community Setting
by Tomomi Yajima, Fumitake Hata, Sei Kurokawa, Kanan Sawamoto, Akiko Yajima, Daisuke Furuya and Noriyuki Sato
Diagnostics 2026, 16(1), 37; https://doi.org/10.3390/diagnostics16010037 - 22 Dec 2025
Viewed by 368
Abstract
Background/Objectives: Conventional next-generation sequencing (NGS) workflows often require more than two weeks to complete, delaying treatment decisions and limiting access to precision oncology in community settings. This report aimed to demonstrate the feasibility of performing rapid, comprehensive cell-free DNA (cfDNA)-based genomic profiling [...] Read more.
Background/Objectives: Conventional next-generation sequencing (NGS) workflows often require more than two weeks to complete, delaying treatment decisions and limiting access to precision oncology in community settings. This report aimed to demonstrate the feasibility of performing rapid, comprehensive cell-free DNA (cfDNA)-based genomic profiling by introducing a fully automated NGS workflow in a community hospital environment. Case Presentation: A postoperative patient with pancreatic ductal adenocarcinoma and liver metastasis underwent cfDNA-based liquid biopsy using plasma collected in PAXgene® Blood ccfDNA Tubes. Gene analysis was performed using the Oncomine Precision Assay GX5 on the Ion Torrent Genexus™ System (Thermo Fisher Scientific). Three pathogenic hotspot mutations—KRAS G12R, TP53 M246I/M246K, and GNA11—and one copy number gain in PIK3CA were identified, whereas no variants were detected in a healthy volunteer control. The total turnaround time from plasma separation to report generation was approximately 27 h, requiring only 40 min of total hands-on time. Discussion: This rapid, automated workflow enabled comprehensive cfDNA analysis within a clinically practical timeframe, overcoming key limitations of conventional multi-step NGS workflows that typically require external sample shipment and specialized personnel. The results confirm the technical feasibility of conducting high-quality molecular testing in a regional hospital setting. Conclusions: This report demonstrates that fully automated cfDNA-based NGS can achieve clinically meaningful genomic profiling within 27 h in a community hospital. This advancement addresses the time and cost barriers of traditional NGS analysis and represents a significant step toward promoting precision medicine in community healthcare. Full article
(This article belongs to the Special Issue Utilization of Liquid Biopsy in Cancer Diagnosis and Management 2025)
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