Manuscript Topics

Epigenetic regulation has emerged as a central mechanism linking genotype, cellular context, and phenotype in both normal tissue homeostasis and disease. In pathology, epigenetic alterations—including DNA methylation changes, histone modifications, chromatin remodeling, and non-coding RNA dysregulation—are increasingly recognized not only as drivers of disease initiation and progression, but also as powerful diagnostic and prognostic biomarkers. Unlike genetic mutations, epigenetic changes are dynamic, tissue-specific, and highly sensitive to microenvironmental cues, making them particularly relevant to the interpretation of morphologically heterogeneous lesions and borderline diagnostic categories.

This Special Issue aims to explore the expanding role of epigenetics across diagnostic pathology, with a focus on its translational integration into routine workflows. Contributions will address how epigenetic mechanisms refine disease classification, resolve diagnostically ambiguous cases, and complement histopathology, immunohistochemistry, and molecular genetics. Particular emphasis will be placed on solid and hematologic neoplasms, inflammatory and fibrotic diseases, and precancerous lesions, where epigenetic signatures can inform tumor lineage, biological behavior, and therapeutic vulnerability.

In addition, this issue will highlight emerging technologies—such as methylation profiling, epigenetic sequencing panels, spatial epigenomics, and AI-assisted epigenetic pattern recognition—that are reshaping diagnostic paradigms. By bridging basic epigenetic biology with tissue-based diagnostics, this Special Issue seeks to provide a pathology-driven perspective on how epigenetic information can be translated into clinically actionable insights.

Overall, the collection aims to position epigenetics not as a parallel discipline, but as an integral component of modern diagnostic pathology, enhancing precision, reproducibility, and personalized patient care.

Submitted papers should not have been previously published, nor be currently under consideration for publication elsewhere. All manuscripts will be peer-reviewed before their acceptance for publication.

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