Epigenetic biomarkers in diagnostic pathology: from analytical validity to diagnostic evidence

Vincenzo Fiorentino; Vincenzo Fiorentino

doi:10.3934/biophy.2026013

AIMS Biophysics

2026, Volume 13, Issue 2: 219-224. doi: 10.3934/biophy.2026013

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Editorial

Epigenetic biomarkers in diagnostic pathology: from analytical validity to diagnostic evidence

Vincenzo Fiorentino ^{1,2
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1.
Anatomic Pathology Unit, Department of Human Pathology in Adult and Developmental Age “Gaetano Barresi”, University of Messina, 98125 Messina, Italy
2.
PhD Program in Translational Molecular Medicine and Surgery, Department of Biomedical, Dental, Morphological and Functional Imaging Sciences, University of Messina, 98125 Messina, Italy

Received: 07 June 2026 Revised: 15 June 2026 Accepted: 16 June 2026 Published: 17 June 2026

Epigenetic alterations are increasingly being evaluated as diagnostic biomarkers and risk-stratification tools in surgical pathology and cytopathology. The clinical implementation of epigenetic biomarkers requires more than the demonstration of disease-associated molecular changes. DNA methylation, histone modifications, chromatin remodeling, and non-coding RNAs may provide clinically relevant information, but their clinical value depends on reproducibility, specimen adequacy, analytical robustness, interpretability, and suitability for clinical reporting. These requirements are particularly relevant in cytopathology and molecular testing of body fluid specimens, where specimens may have low cellularity or suboptimal nucleic acid quality, and morphological interpretation may be equivocal. Urothelial carcinoma represents an informative model because urine-based methylation assays illustrate both the potential and the limitations of epigenetic translation. These assays have been explored as adjunctive tools to cytology in selected diagnostic and surveillance settings, without replacing guideline-based cystoscopic follow-up. This editorial introduces the Special Issue “Epigenetics in Diagnostic Pathology: Translational Biomarkers, Technologies, and Clinical Impact” and supports a translational approach grounded in diagnostic pathology, in which epigenetic biomarkers are evaluated according to their capacity to generate reliable diagnostic evidence in routine clinical specimens.
- epigenetics,
- diagnostic pathology,
- DNA methylation,
- biomarkers,
- liquid biopsy,
- molecular pathology,
- translational medicine
Citation: Vincenzo Fiorentino. Epigenetic biomarkers in diagnostic pathology: from analytical validity to diagnostic evidence[J]. AIMS Biophysics, 2026, 13(2): 219-224. doi: 10.3934/biophy.2026013

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Abstract

Epigenetic alterations are increasingly being evaluated as diagnostic biomarkers and risk-stratification tools in surgical pathology and cytopathology. The clinical implementation of epigenetic biomarkers requires more than the demonstration of disease-associated molecular changes. DNA methylation, histone modifications, chromatin remodeling, and non-coding RNAs may provide clinically relevant information, but their clinical value depends on reproducibility, specimen adequacy, analytical robustness, interpretability, and suitability for clinical reporting. These requirements are particularly relevant in cytopathology and molecular testing of body fluid specimens, where specimens may have low cellularity or suboptimal nucleic acid quality, and morphological interpretation may be equivocal. Urothelial carcinoma represents an informative model because urine-based methylation assays illustrate both the potential and the limitations of epigenetic translation. These assays have been explored as adjunctive tools to cytology in selected diagnostic and surveillance settings, without replacing guideline-based cystoscopic follow-up. This editorial introduces the Special Issue “Epigenetics in Diagnostic Pathology: Translational Biomarkers, Technologies, and Clinical Impact” and supports a translational approach grounded in diagnostic pathology, in which epigenetic biomarkers are evaluated according to their capacity to generate reliable diagnostic evidence in routine clinical specimens.

Conflict of interest

Vincenzo Fiorentino is the guest editor of special issue “Epigenetics in Diagnostic Pathology: Translational Biomarkers, Technologies, and Clinical Impact” for AIMS Biophysics and was not involved in the editorial review or the decision to publish this article. The author declares no conflict of interest.

References

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