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Diagnostics
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Recent Advances in Pathology 2026
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Recent Advances in Pathology 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 December 2026 | Viewed by 5657

Special Issue Editors

Dr. Francesca Sanguedolce

E-Mail Website
Guest Editor
Department of Pathology, University of Foggia School of Medicine, 71121 Foggia, Italy
Interests: genitourinary pathology; diagnostic biomarkers; prognostic/predictive biomarkers; digital pathology; emolymphopathology; bladder cancer; prostate cancer
Special Issues, Collections and Topics in MDPI journals
Dr. Roberta Mazzucchelli

E-Mail Website
Guest Editor
Section of Pathological Anatomy, Department of Biomedical Sciences and Public Health, United Hospitals, Università Politecnica delle Marche, 60126 Ancona, Italy
Interests: uropathology; nephropathology; surgical pathology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Pathology is a constantly evolving discipline, with continuous advancements being made in diagnostic techniques, molecular profiling, and personalized medicine shaping modern clinical practice. This Special Issue, "Recent Advances in Pathology 2026", aims to highlight cutting-edge research and novel developments that are transforming the field. 

This Special Issue will cover a broad spectrum of topics, including innovations in histopathology and cytopathology, with a focus on digital and computational pathology, and the expanding role of artificial intelligence in diagnostic workflows. Advances in molecular pathology, including next-generation sequencing and liquid biopsy technologies, will be emphasized, particularly with regard to their impact on precision medicine, early disease detection, and therapy selection.

Additionally, contributions addressing emerging challenges, such as standardization of pathology reporting, implementations of novel classification systems, and the role of pathology in guiding targeted therapies, are encouraged. By gathering high-quality original research, reviews, and case studies, this Special Issue aims to provide valuable insights into the future of pathology and its implications for patient management and care. 

We invite researchers and clinicians who wish to contribute to consider this Special Issue a platform to share their latest findings and perspectives with the global pathology community.

Dr. Francesca Sanguedolce
Dr. Roberta Mazzucchelli
Guest Editors

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

  • pathology innovations
  • molecular diagnostics
  • biomarkers and precision medicine
  • digital pathology
  • artificial intelligence in pathology
  • translational pathology

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Further information on MDPI's Special Issue policies can be found here.

Published Papers (3 papers)

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Research

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20 pages, 2003 KB  
Article
Expression Analysis of miRNA Profiles in Colorectal Cancer with a Bioinformatics Approach: An Emphasis on miR-4295, miR-4720-5p, miR-4773, and miR-6831-5p
by Recep Eskin, Turkan Gurer, Alper Aytekin and Filiz Ozbas Gerceker
Diagnostics 2026, 16(4), 614; https://doi.org/10.3390/diagnostics16040614 - 19 Feb 2026
Viewed by 430
Abstract
Background/Objectives: This study aimed to determine the potential roles of miR-4295, miR-4720-5p, miR-4773, miR-6831-5p, and miR-7161-5p in colorectal cancer by evaluating their expression levels in matched tumor and adjacent non-tumor tissues from 86 patients. Methods: A total of 172 samples were analyzed, [...] Read more.
Background/Objectives: This study aimed to determine the potential roles of miR-4295, miR-4720-5p, miR-4773, miR-6831-5p, and miR-7161-5p in colorectal cancer by evaluating their expression levels in matched tumor and adjacent non-tumor tissues from 86 patients. Methods: A total of 172 samples were analyzed, and the associations between miRNA expression levels and clinicopathological characteristics were assessed, along with correlations among the miRNAs. Functional enrichment analyses, including GO and KEGG pathway evaluations, were performed using DIANA-mirPath v.3 to characterize biological processes and signaling pathways associated with the predicted target genes. Results: The results showed that miR-4295 and miR-4720-5p were significantly upregulated in tumor tissues, while miR-4773 and miR-6831-5p were significantly downregulated (p < 0.001). No significant difference in miR-7161-5p expression was observed between tumor and non-tumor tissues (p = 0.877). KEGG analysis indicated that miR-4295, miR-4720-5p, miR-4773, and miR-6831-5p regulate genes involved in the TGF-β, mTOR, ErbB, FoxO, and endocytosis signaling pathways. Conclusions: These findings suggest that miR-4295 and miR-4720-5p may have oncogenic functions, while miR-4773 and miR-6831-5p may have tumor-suppressing functions, and that this relationship may contribute to the development of colorectal cancer. Full article
(This article belongs to the Special Issue Recent Advances in Pathology 2026)
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16 pages, 1354 KB  
Article
A Clinically Translatable Multimodal Deep Learning Model for HRD Detection from Histopathology Images
by Mohan Uttarwar, Jayant Khandare, P. M. Shivamurthy, Aditya Satpute, Mohit Panwar, Hrishita Kothavade, Aarthi Ramesh, Sandhya Iyer and Gowhar Shafi
Diagnostics 2026, 16(2), 356; https://doi.org/10.3390/diagnostics16020356 - 21 Jan 2026
Viewed by 716
Abstract
Background: With extensive research and development in the past decade, the affordability of Poly (ADP-ribose) polymerase (PARP) inhibitor therapy has drastically improved. Homologous recombination deficiency (HRD), a key biomarker, has been identified as an important guiding factor for PARP inhibitor therapeutic decisions in [...] Read more.
Background: With extensive research and development in the past decade, the affordability of Poly (ADP-ribose) polymerase (PARP) inhibitor therapy has drastically improved. Homologous recombination deficiency (HRD), a key biomarker, has been identified as an important guiding factor for PARP inhibitor therapeutic decisions in breast and ovarian cancer. However, identification of patients who will respond to Poly (ADP-ribose) polymerase (PARP) inhibitor therapy is challenging due to the lack of a unifying morphological phenotype. Current HRD testing via next-generation sequencing (NGS) is tissue-dependent, has high failure rates, misses relevant HRD genes, and involves longer turn-around times. Methods: To overcome these limitations, we developed a multimodal AI model, TRINITY, combining imaging, image-based transcriptome data, and clinico-molecular data, to examine whole-slide images (WSIs) obtained from hematoxylin and eosin (H&E)-stained samples to non-invasively predict HRD status. Results: The TRINITY model, tested on 316 TCGA breast and OV samples, presented a sensitivity of 0.77 and 0.91, NPV of 0.94 and 0.86, PPV of 0.63 and 0.58, specificity of 0.89 and 0.47, and AUC-ROC of 0.91 and 0.72, respectively. The model also yielded a similar outcome in a blind study of 74 samples, with a sensitivity of 81.2, NPV of 0.85, PPV of 0.77, specificity of 0.81, and high AUC-ROC value of 0.89, showing its promising preliminary evidence of predicting HRD status on external cohorts. Conclusions: These findings demonstrate TRINITY’s potential as a rapid, cost-effective, and tissue-sparing alternative to conventional NGS testing. While promising, further validation is needed to establish its generalizability across broader cancer types. Full article
(This article belongs to the Special Issue Recent Advances in Pathology 2026)
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Other

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11 pages, 2864 KB  
Case Report
Acute Airway Crisis in Mucopolysaccharidosis VI: Management Challenges
by Assel Tulebayeva, Chaitanya Gadepalli and Maira Sharipova
Diagnostics 2026, 16(7), 1009; https://doi.org/10.3390/diagnostics16071009 - 27 Mar 2026
Viewed by 366
Abstract
Background and Clinical Significance: Mucopolysaccharidosis type VI is a rare lysosomal storage disorder due to arylsulfatase B enzyme deficiency, leading to progressive multisystem disease and complex airway. Acute respiratory infections can precipitate airway embarrassment. A structured treatment guideline is currently lacking. We present [...] Read more.
Background and Clinical Significance: Mucopolysaccharidosis type VI is a rare lysosomal storage disorder due to arylsulfatase B enzyme deficiency, leading to progressive multisystem disease and complex airway. Acute respiratory infections can precipitate airway embarrassment. A structured treatment guideline is currently lacking. We present a 7-year-old MPS VI male with respiratory distress, highlighting the challenges in management. Case Presentation: Case review focusing on clinical presentation, imaging findings, and multidisciplinary decision-making during acute deterioration. A child diagnosed with MPS VI at the age of 3.5 years old, due to low arylsulfatase B enzyme activity and homozygous for c.275C>A p.(Thr92Lys) variant in the ARSB gene. At 7 years of age, he showed the signs of dyspnoea, increased respiratory effort with bilateral crepitations, and noisy breathing. Initial management included facemask oxygen, nebulised adrenaline, corticosteroids, and bronchodilators. Computer tomography scan of the neck and chest showed a complex upper airway, multiple tracheal narrowing, tortuosity, and an extra loop of truncus brachiocephalicus from the arch of the aorta. Potential interventions carried substantial risks due to abnormal airway and multisystem disease. Following extensive multidisciplinary discussion after careful consideration of the significant risks associated with invasive airway interventions, a shared decision was reached with the family to adopt a comfort-focused palliative care approach. Despite the best supportive care, the child unfortunately passed away after 3 months. The family was involved in every decision process and was fully supported. Conclusions: MPS VI is associated with complex airways and multisystem disease. Multidisciplinary decision-making with family is critical to safe and appropriate care. The rarity of the disease, lack of guidelines, complex airways, and multiple comorbidities make management challenging. Full article
(This article belongs to the Special Issue Recent Advances in Pathology 2026)
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