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Diagnostics
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Utilization of Liquid Biopsy in Cancer Diagnosis and Management 2025–2026
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Utilization of Liquid Biopsy in Cancer Diagnosis and Management 2025–2026

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 2027 | Viewed by 15068

Editor

Prof. Dr. Consolato M. Sergi

E-Mail Website
Guest Editor
Department of Laboratory Medicine and Pathology, Division of Anatomical Pathology, Children’s Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON K1H 8L1, Canada
Interests: pathology; cancer diagnosis; sarcoma; arthro-skeletal diseases; precision medicine; personalized medicine
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

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

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-anonymized peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

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

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Published Papers (5 papers)

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Research

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21 pages, 2309 KB  
Article
Multistep ctDNA Monitoring of Minimal Residual Disease in Colorectal Cancer Liver Metastases: From Tissue NGS to Highly Sensitive Digital PCR Platforms
by Izabela Górzyńska, Agata Konieczka, Paweł Gaj, Michał Świerniak, Tomasz Stokłosa, Michał Grąt and Oskar Kornasiewicz
Diagnostics 2026, 16(5), 645; https://doi.org/10.3390/diagnostics16050645 - 24 Feb 2026
Viewed by 1246
Abstract
Background/Objectives: Colorectal cancer (CRC) liver metastases present a significant clinical challenge due to high recurrence risks post-resection. Traditional diagnostics often fail to detect early-stage minimal residual disease (MRD). This preliminary pilot study evaluated ctDNA dynamics in 10 patients with liver metastases using [...] Read more.
Background/Objectives: Colorectal cancer (CRC) liver metastases present a significant clinical challenge due to high recurrence risks post-resection. Traditional diagnostics often fail to detect early-stage minimal residual disease (MRD). This preliminary pilot study evaluated ctDNA dynamics in 10 patients with liver metastases using a personalized multistep approach. Methods: Following primary tumor Next-Generation Sequencing (NGS) to identify somatic mutations in KRAS, NRAS, TP53, RET, APC, and WRN, custom TaqMan assays were designed for longitudinal plasma analysis. Four methodologies were compared: HRM-PCR, PNA-enhanced qPCR, and two digital platforms (dPCR and ddPCR). Results: While HRM-PCR sensitivity was limited in plasma, digital platforms demonstrated 100% qualitative concordance. MRD-negative status (VAF 0.00%) was identified in 70% of cases (P01, P03, P06, P07, P08, P09, P10), while detectable ctDNA in patients P02, P04, and P05 strongly correlated with aggressive progression. Digital PCR enabled the ultra-low detection of Variant Allele Frequencies (VAFs), identifying high molecular burdens (e.g., P05, VAF 49%) correlating with rapid decline, and capturing early molecular residue in P04 (VAF 0.62%). Conclusions: Our preliminary findings confirm that personalized longitudinal VAF tracking via digital PCR provides superior prognostic value, serving as a robust tool for recurrence monitoring in personalized CRC therapy. Full article
(This article belongs to the Special Issue Utilization of Liquid Biopsy in Cancer Diagnosis and Management 2025–2026)
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Review

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24 pages, 1446 KB  
Review
The Transformative Potential of Liquid Biopsies and Circulating Tumor DNA (ctDNA) in Modern Oncology
by Keren Rouvinov, Rashad Naamneh, Alexander Yakobson, Wenad Najjar, Mahmoud Abu Amna, Arina Soklakova, Ez El Din Abu Zeid, Ronen Brenner, Mohnnad Asla, Fahmi Abu Ghalion, Ali Abu Juma’a, Amichay Meirovitz and Walid Shalata
Diagnostics 2026, 16(4), 523; https://doi.org/10.3390/diagnostics16040523 - 9 Feb 2026
Cited by 8 | Viewed by 4146
Abstract
Background: Liquid biopsy, particularly through the analysis of circulating tumor DNA (ctDNA), represents a significant advancement in oncology. Unlike traditional tissue biopsies, ctDNA offers a minimally invasive, real-time approach to cancer management. It has demonstrated considerable potential in early cancer detection, monitoring [...] Read more.
Background: Liquid biopsy, particularly through the analysis of circulating tumor DNA (ctDNA), represents a significant advancement in oncology. Unlike traditional tissue biopsies, ctDNA offers a minimally invasive, real-time approach to cancer management. It has demonstrated considerable potential in early cancer detection, monitoring of therapeutic responses, and assessing minimal residual disease (MRD) to predict recurrence. By enabling comprehensive molecular profiling through a simple blood test, ctDNA supports the core principles of precision oncology, facilitating more personalized and adaptive treatment strategies. Methods: In the following article we describe the recent developments focused on refining ctDNA detection assays to improve sensitivity and specificity. Advanced technologies, including next-generation sequencing (NGS) and digital PCR, are commonly employed. The integration of artificial intelligence (AI) and multi-omics approaches—such as combining genomic, epigenomic, and transcriptomic data—has further enhanced the analytical power of ctDNA assays. Results: Emerging evidence shows that ctDNA-based liquid biopsy enables dynamic, real-time tracking of tumor evolution and therapeutic resistance. Clinical studies have demonstrated its efficacy in detecting early-stage cancers, guiding treatment selection, and predicting relapse with higher accuracy than some conventional methods. Moreover, AI-enhanced algorithms have improved signal detection, allowing for more precise and earlier identification of actionable mutations and MRD. Conclusions: ctDNA analysis via liquid biopsy is poised to revolutionize cancer care by offering a non-invasive, precise, and adaptive tool for tumor characterization and monitoring. Although obstacles remain—particularly regarding assay sensitivity, standardization, and economic feasibility—ongoing technological innovations and multi-omics integration are rapidly advancing its clinical viability. With continued progress, ctDNA-based liquid biopsy is likely to become a cornerstone of routine oncology practice. Full article
(This article belongs to the Special Issue Utilization of Liquid Biopsy in Cancer Diagnosis and Management 2025–2026)
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15 pages, 563 KB  
Review
Liquid Biopsy-Based Biomolecular Alterations for the Diagnosis of Triple-Negative Breast Cancer in Adults: A Scoping Review
by Orieta Navarrete-Fernández, Eddy Mora, Josue Rivadeneira, Víctor Herrera and Ángela L. Riffo-Campos
Diagnostics 2026, 16(2), 360; https://doi.org/10.3390/diagnostics16020360 - 22 Jan 2026
Cited by 1 | Viewed by 1278
Abstract
Background/Objectives: Triple-negative breast cancer (TNBC) is an aggressive subtype, with limited diagnostic options and no targeted early detection tools. Liquid biopsy represents a minimally invasive approach for detecting tumor-derived molecular alterations in body fluids. This scoping review aimed to comprehensively synthesize all liquid [...] Read more.
Background/Objectives: Triple-negative breast cancer (TNBC) is an aggressive subtype, with limited diagnostic options and no targeted early detection tools. Liquid biopsy represents a minimally invasive approach for detecting tumor-derived molecular alterations in body fluids. This scoping review aimed to comprehensively synthesize all liquid biopsy-derived molecular biomarkers evaluated for the diagnosis of TNBC in adults. Methods: This review followed the Arksey and O’Malley framework and PRISMA-ScR guidelines. Systematic searches of PubMed, Scopus, Embase, and Web of Science identified primary human studies evaluating circulating molecular biomarkers for TNBC diagnosis. Non-TNBC, non-human, hereditary, treatment-response, and nonmolecular studies were excluded. Data on study design, patient characteristics, biospecimen type, analytical platforms, biomarker class, and diagnostic performance were extracted and synthesized descriptively by biomolecule class. Results: Thirty-two studies met the inclusion criteria, comprising 15 protein-based, 12 RNA-based, and 6 DNA-based studies (one reporting both protein and RNA). In total, 1532 TNBC cases and 3137 participants in the comparator group were analyzed. Protein biomarkers were the most frequently studied, although only APOA4 appeared in more than one study, with conflicting results. RNA-based biomarkers identified promising candidates, particularly miR-21, but validation cohorts were scarce. DNA methylation markers showed promising diagnostic accuracy yet lacked replication. Most studies were small retrospective case–control designs with heterogeneous comparators and inconsistent diagnostic reporting. Conclusions: Evidence for liquid biopsy-derived biomarkers in TNBC remains limited, heterogeneous, and insufficiently validated. No biomarker currently shows reproducibility suitable for clinical implementation. Robust, prospective, and standardized studies are needed to advance liquid biopsy-based diagnostics in TNBC. Full article
(This article belongs to the Special Issue Utilization of Liquid Biopsy in Cancer Diagnosis and Management 2025–2026)
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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 7 | Viewed by 5500
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 2025–2026)
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Other

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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
Cited by 2 | Viewed by 1683
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 2025–2026)
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