Advances in Molecular Pathology and Biomarkers for Tumor Diagnosis and Prognosis

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

Deadline for manuscript submissions: 30 November 2026 | Viewed by 736

Special Issue Editors


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Guest Editor Assistant
Department of Biomedical, Dental, Morphological and Functional Imaging Sciences, University of Messina, 98125 Messina, Italy
Interests: cancer molecular pathology; molecular biology of bone metabolism

Special Issue Information

Dear Colleagues,

Recent advances in molecular pathology have significantly improved our understanding of tumor biology and transformed the diagnostic and prognostic assessment of cancer. The identification and validation of molecular biomarkers are now central to modern oncology, enabling more precise tumor classification, improved risk stratification, and better prediction of disease progression and clinical outcomes.

This Special Issue aims to highlight recent progress in molecular pathology and the discovery and clinical application of biomarkers for tumor diagnosis and prognosis. We welcome contributions exploring novel molecular markers, genomic and transcriptomic profiling, and multi-omics approaches that enhance diagnostic accuracy and provide insights into tumor heterogeneity and progression.

In addition, we encourage submissions investigating the integration of molecular biomarkers into routine pathology practice, including studies addressing translational applications, biomarker validation, and their potential role in guiding clinical decision-making.

By bringing together original research and comprehensive reviews, this Special Issue seeks to provide an updated overview of emerging molecular tools and biomarkers that may improve cancer diagnosis, prognostic evaluation, and personalized patient management. 

Dr. Maurizio Martini
Guest Editor 

Gabriele Ricciardi
Guest Editor Assistant

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-blind 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

  • molecular pathology
  • biomarkers
  • modern oncology

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Published Papers (1 paper)

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Research

17 pages, 2445 KB  
Article
Integrative Bioinformatic Analysis Identifies Key Genes Driving Breast Cancer Brain Metastasis
by Wei-Yi Ting, Yueh-Hsun Lu and Che-Ming Lin
Diagnostics 2026, 16(8), 1149; https://doi.org/10.3390/diagnostics16081149 - 13 Apr 2026
Viewed by 533
Abstract
Background/Objectives: Brain metastasis (BM) represents a significant clinical challenge in advanced breast cancer, yet the molecular mechanisms driving breast cancer brain metastasis (BCBM) remain incompletely characterized. This study aims to identify key molecular pathways and hub genes specifically associated with BCBM through comprehensive [...] Read more.
Background/Objectives: Brain metastasis (BM) represents a significant clinical challenge in advanced breast cancer, yet the molecular mechanisms driving breast cancer brain metastasis (BCBM) remain incompletely characterized. This study aims to identify key molecular pathways and hub genes specifically associated with BCBM through comprehensive bioinformatic analyses. Methods: Gene Set Enrichment Analysis (GSEA), differential gene expression analysis, and weighted gene co-expression network analysis (WGCNA) were performed using two independent GEO datasets (GSE191230 and GSE43837). Protein–protein interaction (PPI) networks were constructed to visualize functional interconnections among dysregulated genes. Survival analyses were conducted using the Kaplan–Meier Plotter database to evaluate the prognostic significance of identified hub genes. Results: GSEA revealed significant upregulation of metabolic pathways (mTORC1 signaling, glycolysis, oxidative phosphorylation) and downregulation of immune-related pathways in BCBM compared to primary tumors. Integrative analysis identified 34 consistently dysregulated genes across datasets, from which 12 hub genes were validated. Among these, RRM2, CDCA8, CCNB1, LMNB2, FANCI, NCAPH, YWHAZ, and ESPL1 demonstrated brain-specific over-expression compared to other metastatic sites. Functional enrichment analysis highlighted cell cycle dysregulation as a critical mechanism in BCBM, and all hub genes showed significant association with poor prognosis in breast cancer patients. Conclusions: This study identifies a unique molecular profile of BCBM characterized by cell cycle dysregulation, metabolic reprogramming, and immune microenvironment alterations. The brain-specific expression patterns of these hub genes represent potential biomarkers for BCBM risk assessment and novel therapeutic targets, providing a basis for precision medicine development. Full article
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