Advanced Pathology and Diagnostics in Gastroenterology and Liver Diseases

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

Deadline for manuscript submissions: closed (30 April 2024) | Viewed by 4197

Special Issue Editor


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Guest Editor
1. Department of Pathology, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan
2. Department of Clinical Pathology, Wan Fang Hospital, Taipei Medical University, Taipei, Taiwan
Interests: liver disease; pathology; gastroenterology; Hepatology; genitourinary pathology

Special Issue Information

Dear Colleagues,

In recent years, there have been significant advances in the diagnosis and treatment of various gastrointestinal and liver diseases, such as colorectal cancer. However, there are also many diseases that have not made significant progress and remain stagnant. This new Special Issue focusing on advanced pathology and diagnostics in gastrointestinal and hepatic diseases aims to compile research and review articles on several fields of gastroenterology and hepatology. We invite research on diagnostic methodology, pathological basis, theranostics, novel therapeutic, prognostic and diagnostic biomarkers, and other related topics of gastrointestinal and hepatic diseases. Articles related to emerging artificial-intelligence-assisted diagnostics are also strongly encouraged. The artificial-intelligence-assisted tools may include, but are not limited to, medical imaging, digital pathology, endoscopic image and artificial intelligence algorithms. We look forward to receiving your contributions.

Dr. I-Wei Chang
Guest Editor

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 100 words) can be sent to the Editorial Office for announcement on this website.

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

  • gastroenterology
  • hepatology
  • pathology
  • diagnostics
  • theranostics
  • biomarkers

Published Papers (3 papers)

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Research

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14 pages, 2909 KiB  
Article
The Genomic Landscape of Colorectal Cancer in the Saudi Arabian Population Using a Comprehensive Genomic Panel
by Ebtehal Alsolme, Saleh Alqahtani, Musa Fageeh, Duna Barakeh, Nitesh K. Sharma, Serghei Mangul, Heather A. Robinson, Amany Fathaddin, Charlotte A. E. Hauser and Malak Abedalthagafi
Diagnostics 2023, 13(18), 2993; https://doi.org/10.3390/diagnostics13182993 - 19 Sep 2023
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Abstract
Purpose: Next-generation sequencing (NGS) technology detects specific mutations that can provide treatment opportunities for colorectal cancer (CRC) patients. Patients and Methods: We analyzed the mutation frequencies of common actionable genes and their association with clinicopathological characteristics and oncologic outcomes using targeted NGS in [...] Read more.
Purpose: Next-generation sequencing (NGS) technology detects specific mutations that can provide treatment opportunities for colorectal cancer (CRC) patients. Patients and Methods: We analyzed the mutation frequencies of common actionable genes and their association with clinicopathological characteristics and oncologic outcomes using targeted NGS in 107 Saudi Arabian patients without a family history of CRC. Results: Approximately 98% of patients had genetic alterations. Frequent mutations were observed in BRCA2 (79%), CHEK1 (78%), ATM (76%), PMS2 (76%), ATR (74%), and MYCL (73%). The APC gene was not included in the panel. Statistical analysis using the Cox proportional hazards model revealed an unusual positive association between poorly differentiated tumors and survival rates (p = 0.025). Although no significant univariate associations between specific mutations or overall mutation rate and overall survival were found, our preliminary analysis of the molecular markers for CRC in a predominantly Arab population can provide insights into the molecular pathways that play a significant role in the underlying disease progression. Conclusions: These results may help optimize personalized therapy when drugs specific to a patient’s mutation profile have already been developed. Full article
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13 pages, 1659 KiB  
Article
Underexpression of Carbamoyl Phosphate Synthetase I as Independent Unfavorable Prognostic Factor in Intrahepatic Cholangiocarcinoma: A Potential Theranostic Biomarker
by Khaa Hoo Ong, Yao-Yu Hsieh, Ding-Ping Sun, Steven Kuan-Hua Huang, Yu-Feng Tian, Chia-Ling Chou, Yow-Ling Shiue, Keva Joseph and I-Wei Chang
Diagnostics 2023, 13(13), 2296; https://doi.org/10.3390/diagnostics13132296 - 06 Jul 2023
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Abstract
Intrahepatic cholangiocarcinoma (IHCC) is the second most common malignant neoplasm of the liver. In spite of the increasing incidence worldwide, it is relatively rare in Western countries. IHCC is relatively common in Eastern and Southeastern Asia. Patients with IHCC are usually diagnosed at [...] Read more.
Intrahepatic cholangiocarcinoma (IHCC) is the second most common malignant neoplasm of the liver. In spite of the increasing incidence worldwide, it is relatively rare in Western countries. IHCC is relatively common in Eastern and Southeastern Asia. Patients with IHCC are usually diagnosed at an advanced stage, therefore, the clinical outcome is dismal. Dysregulation of urea cycle metabolic enzyme expression is found in different types of cancers. Nevertheless, a comprehensive evaluation of genes related to the urea cycle (i.e., GO:0000050) has not been conducted in IHCC. By performing a comparative analysis of gene expression profiles, we specifically examined genes associated with the urea cycle (GO:0000050) in a publicly accessible transcriptomic dataset (GSE26566). Interestingly, CPS1 was identified as the second most prominently down-regulated gene in this context. Tumor tissues of 182 IHCC patients who underwent curative-intent hepatectomy were enrolled. The expression level of CPS1 protein in our IHCC cohort was assessed by immunohistochemical study. Subsequent to that, statistical analyses were carried out to examine the expression of CPS1 in relation to various clinicopathological factors, as well as to assess its impact on survival outcomes. We noticed that lower immunoreactivity of CPS1 in IHCC was associated with tumor progression (pT status) with statistical significance (p = 0.003). CPS1 underexpression was not only negatively correlated to overall survival (OS), disease-free survival (DFS), local recurrence-free survival (LRFS) and metastasis-free survival (MeFS) in univariate analysis but also an independent prognosticator to forecast poorer clinical outcome for all prognostic indices (OS, DFS, LRFS and MeFs) in patients with IHCC (all p ≤ 0.001). These results support that CPS1 may play a crucial role in IHCC oncogenesis and tumor progression and serve as a novel prognostic factor and a potential diagnostic and theranostic biomarker. Full article
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Review

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0 pages, 282 KiB  
Review
Exceptional Liver Transplant Indications: Unveiling the Uncommon Landscape
by Teodor Cabel, Cristina Madalina Pascu, Catalin Stefan Ghenea, Bogdan Florin Dumbrava, Deniz Gunsahin, Andreea Andrunache, Livia-Marieta Negoita, Afrodita Panaitescu, Ecaterina Mihaela Rinja, Christopher Pavel, Oana-Mihaela Plotogea, Madalina Stan-Ilie, Vasile Sandru and Mariana Mihaila
Diagnostics 2024, 14(2), 226; https://doi.org/10.3390/diagnostics14020226 - 21 Jan 2024
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Abstract
Liver transplantation represents the definitive intervention for various etiologies of liver failure and encompasses a spectrum of rare indications crucial to understanding the diverse landscape of end-stage liver disease, with significantly improved survival rates over the past three decades. Apart from commonly encountered [...] Read more.
Liver transplantation represents the definitive intervention for various etiologies of liver failure and encompasses a spectrum of rare indications crucial to understanding the diverse landscape of end-stage liver disease, with significantly improved survival rates over the past three decades. Apart from commonly encountered liver transplant indications such as decompensated cirrhosis and liver cancer, several rare diseases can lead to transplantation. Recognition of these rare indications is essential, providing a lifeline to individuals facing complex liver disorders where conventional treatments fail. Collaborative efforts among healthcare experts lead not only to timely interventions but also to the continuous refinement of transplant protocols. This continued evolution in transplant medicine promises hope for those facing diverse and rare liver diseases, marking a paradigm shift in the landscape of liver disease management. Full article
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