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Biomedicines
Special Issues
Gastrointestinal Diseases: From Pathophysiology to Innovative Therapeutic Approaches
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Gastrointestinal Diseases: From Pathophysiology to Innovative Therapeutic Approaches

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular and Translational Medicine".

Deadline for manuscript submissions: 30 April 2026 | Viewed by 118

Special Issue Editor

Dr. Francisco Tustumi

E-Mail Website
Guest Editor
Department of Gastroenterology , Universidade de São Paulo, Av. Dr. Enéas Carvalho de Aguiar, 255-Cerqueira César, São Paulo 05403-000, SP, Brazil
Interests: minimally invasive and robotic gastrointestinal surgery; surgical oncology of the digestive system; benign gastrointestinal diseases; outcomes research and surgical innovation; translational research in gastrointestinal diseases; complications and management of bariatric and metabolic surgery; survival and recurrence analysis in gastrointestinal malignancies
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Advances in molecular biology, immunology, microbiome research, and surgical innovation have transformed our understanding of the pathophysiology of gastrointestinal diseases and opened new avenues for diagnosis and treatment. This Special Issue, “Gastrointestinal Diseases: From Pathophysiology to Innovative Therapeutic Approaches,” aims to gather original research articles, reviews, and translational insights that explore the underlying mechanisms and emerging strategies for managing gastrointestinal disorders. Topics of interest include—but are not limited to—benign and malignant gastrointestinal diseases, inflammatory conditions, microbiota–host interactions, immunological responses, diagnostic biomarkers, and multidisciplinary treatment paradigms. By bringing together contributions from clinicians, researchers, and basic scientists, this Special Issue seeks to foster a comprehensive understanding of the current landscape and future directions in the field. We especially welcome collaborative and integrative approaches that bridge bench-to-bedside gaps and contribute to personalized medicine.

Dr. Francisco Tustumi
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. Biomedicines is an international peer-reviewed open access monthly 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

  • gastrointestinal diseases
  • pathophysiology
  • microbiome
  • inflammation
  • gastrointestinal cancer
  • translational medicine
  • therapeutic innovation
  • personalized treatment

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Published Papers (1 paper)

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Research

26 pages, 3693 KB  
Article
Mutations in CREBBP and EP300 HAT and Bromo Domains Drive Hypermutation and Predict Survival in GI Cancers Treated with Immunotherapy
by Mariia Gusakova, Fedor Sharko, Aleksandra Mamchur, Eugenia Boulygina, Anastasia Mochalova, Artem Bullikh and Maxim Patrushev
Biomedicines 2025, 13(11), 2592; https://doi.org/10.3390/biomedicines13112592 - 23 Oct 2025
Abstract
Background: The role of CREBBP and EP300 mutations in hypermutation and immunotherapy response in gastroesophageal adenocarcinomas is poorly defined and needs further investigation. Methods: We conducted an in silico analysis of 12 publicly available studies (n = 1871; cBioPortal), stratifying samples by CREBBP/EP300 [...] Read more.
Background: The role of CREBBP and EP300 mutations in hypermutation and immunotherapy response in gastroesophageal adenocarcinomas is poorly defined and needs further investigation. Methods: We conducted an in silico analysis of 12 publicly available studies (n = 1871; cBioPortal), stratifying samples by CREBBP/EP300 status to assess associations with TMB-High, MSI, co-mutation patterns, and mutation localization. Clinical validation was performed in an independent pan-cancer cohort treated with ICIs (n = 1610) and a gastric cancer cohort with WES data (n = 55). Results: Coding mutations in CREBBP and/or EP300 were significantly associated with TMB-high and MSI-high phenotypes (p < 0.001). All studied samples carrying coding mutations in both CREBBP and EP300 exhibited a TMB-high status. PTVs in functional HAT and bromodomain regions were exclusively associated with TMB-high. Incorporating CREBBP and/or EP300 mutation status improved identification of ultra-hypermutated tumors compared with single-gene biomarkers (p < 0.001). Clinically, these mutations predicted improved overall survival in the pan-cancer cohort (median OS 34 vs. 17 months; HR = 0.68, 95% CI 0.52–0.87, p = 0.0026), as well as in bladder (HR = 0.55, p = 0.0337) and gastrointestinal cancer cohorts (HR = 0.31, p = 0.0021) treated with ICIs. In the gastric cancer validation cohort, all tumors with PTVs demonstrated a partial response to anti-PD-1 therapy. Conclusions: We report CREBBP and EP300 coding mutations as novel potential surrogate biomarkers for hypermutation in gastroesophageal adenocarcinomas and demonstrate their association with favorable immunotherapy outcomes, supporting their potential clinical utility for patient stratification. Full article
(This article belongs to the Special Issue Gastrointestinal Diseases: From Pathophysiology to Innovative Therapeutic Approaches)
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