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False-Positive and False-Negative Laboratory Biomarkers

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Biochemistry".

Deadline for manuscript submissions: 20 September 2025 | Viewed by 1838

Special Issue Editors


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Guest Editor
Laboratorio Clinico Generale con Aree Specialistiche, Patologia Clinica—Microbiologia e Virologia, IRCCS MultiMedica SPA, Via Fantoli 16/15, 20138 Milan, Italy
Interests: cardiovascular

E-Mail Website
Guest Editor
Laboratorio Clinico Generale con Aree Specialistiche, Patologia Clinica—Microbiologia e Virologia, IRCCS MultiMedica SPA, Via Fantoli 16/15, 20138 Milan, Italy
Interests: microbe-host interactions; biofilms and antibiotic resistance; implant-associated infections; microbiome research

Special Issue Information

Dear Colleagues,

Biomarkers play a crucial role in the diagnosis and management of various diseases. For example, in oncology, mutations such as EGFR, KRAS, and BRAF serve as vital indicators for targeted therapies. Additionally, for cardiovascular diseases, markers such as hs-CRP, BNP, NT-proBNP, and troponin I/T provide insights into heart function and disease severity. In neurology, the presence of Aβ42, tau proteins, and neurofilament light chain (NFL) is indicative of neurodegenerative disorders. Autoimmune conditions can be assessed through antibodies like ANA, dsDNA, and anti-CCP, while infectious diseases often rely on CRP, PCT, and specific viral antibodies or nucleic acids for diagnosis. However, the accuracy of biomarker detection is influenced by a complex interplay of factors, which can lead to false-positive and false-negative results.

This Special Issue aims to explore the underlying molecular mechanisms that contribute to these inaccuracies, providing a theoretical foundation for improving biomarker reliability and advancing clinical practice.

To achieve this goal, we invite original research articles, reviews, case reports, and meta-analyses that specifically investigate the factors contributing to false-positive and false-negative results in biomarker detection. This includes exploring the impact of sample pre-processing techniques, analytical methodologies, and biomolecular modifications on assay performance. We also encourage submissions that examine how genomic variations, epigenetic alterations, and microenvironmental conditions can influence biomarker expression and detection accuracy. Furthermore, studies that evaluate the effectiveness of multi-omics approaches, liquid biopsy technologies, and single-cell sequencing in reducing diagnostic errors and enhancing the reliability of biomarkers are particularly welcome.

Dr. Michela Salvatici
Dr. Lorenzo Drago
Guest Editors

Manuscript Submission Information

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Keywords

  • biomarkers
  • false positives/negatives
  • protein biomarkers
  • nucleic acid markers
  • multi-omics
  • single-cell sequencing
  • liquid biopsy

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Published Papers (2 papers)

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Research

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17 pages, 2960 KiB  
Article
Harnessing Plasma Biomarkers to Predict Immunotherapy Outcomes in Hepatocellular Carcinoma: The Role of cfDNA, ctDNA, and Cytokines
by Elena Vargas-Accarino, Mónica Higuera, María Bermúdez-Ramos, Agnès Soriano-Varela, María Torrens, Mònica Pons, Ana María Aransay, José Ezequiel Martín, Francisco Rodríguez-Frías, Xavier Merino and Beatriz Mínguez
Int. J. Mol. Sci. 2025, 26(6), 2794; https://doi.org/10.3390/ijms26062794 - 20 Mar 2025
Viewed by 395
Abstract
Immunotherapy has improved survival in patients with advanced hepatocellular carcinoma (HCC); yet, objective radiological responses occur in only about 20% of cases, suggesting variable benefits. This study aimed to identify serologic markers predictive of response to immune checkpoint inhibitors (ICIs). A cohort of [...] Read more.
Immunotherapy has improved survival in patients with advanced hepatocellular carcinoma (HCC); yet, objective radiological responses occur in only about 20% of cases, suggesting variable benefits. This study aimed to identify serologic markers predictive of response to immune checkpoint inhibitors (ICIs). A cohort of 38 advanced HCC patients receiving immunotherapy was prospectively analyzed. Levels of cell-free DNA (cfDNA), circulating tumor DNA (ctDNA), and cytokines were measured pre-treatment and three months post-treatment initiation. Genomic profiling of ctDNA was also conducted. Baseline levels of cfDNA and ctDNA effectively discriminated HCC patients based on their radiological response to ICIs. Additionally, individuals with pathologic mutations in the CDKN2A gene exhibited significantly reduced survival. Patients with progressive disease (PD) as their best radiological response had significantly fewer copy number variations (CNVs) than those with a radiological response. Furthermore, levels of IL10, PD1, and TGFβ assessed after three months of treatment showed significant variations correlating with survival status. In conclusion, the analysis of cfDNA, ctDNA, and cytokines may improve treatment selection for HCC patients by predicting their expected response to immunotherapies. Full article
(This article belongs to the Special Issue False-Positive and False-Negative Laboratory Biomarkers)
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Review

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12 pages, 596 KiB  
Review
Review of Literature and Recommended Procedures for Management of Unusual Cases of False Positive Troponin Tests
by Michela Salvatici, Carmen Sommese, Massimiliano M. Corsi Romanelli and Lorenzo Drago
Int. J. Mol. Sci. 2025, 26(3), 1045; https://doi.org/10.3390/ijms26031045 - 26 Jan 2025
Viewed by 992
Abstract
Heterophile antibodies are immunoglobulins produced by the immune system in response to exposure to animal and bacterial antigens, blood transfusions, autoimmune disorders, hematologic malignancies, dialysis, and pregnancy. Recently, these antibodies have garnered significant attention due to their impact on the accuracy of laboratory [...] Read more.
Heterophile antibodies are immunoglobulins produced by the immune system in response to exposure to animal and bacterial antigens, blood transfusions, autoimmune disorders, hematologic malignancies, dialysis, and pregnancy. Recently, these antibodies have garnered significant attention due to their impact on the accuracy of laboratory test results. Heterophile antibodies can bind not only to specific antigens but also to those from different species, including the antibodies used in laboratory tests. This cross-reactivity with foreign proteins is the basis for their interference in immunological assays, such as those measuring cardiospecific troponins (cTn). This manuscript reviews the literature on cases of heterophile antibody interference in troponin testing and proposes an algorithm for identifying such interference when clinical discrepancies arise. Recognizing and addressing heterophile antibody interference is crucial, particularly for tests like those for troponins, which are key biomarkers in the diagnosis and management of emergency and intensive care patients. The literature emphasizes the need for accurate procedures to distinguish true cardiac damage from false positives, thereby preventing unnecessary additional tests and hospitalizations. Full article
(This article belongs to the Special Issue False-Positive and False-Negative Laboratory Biomarkers)
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