Molecularly redefining small bowel adenocarcinoma to accelerate precision patient care – protocol of a multicenter observational cohort biomarker study
Abstract Background Small Bowel Adenocarcinoma (SBA) is a rare gastrointestinal cancer with a limited understanding of the molecular pathology. This study aims to bridge the knowledge gap, providing a robust molecular foundation for SBA and addressing the clinical challenges inherent in treating thi...
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2025-01-01
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| Online Access: | https://doi.org/10.1186/s12885-024-13369-1 |
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| author | Rasmus Haunstrup Døssing Julia Johanna Almer Broman Colm J. O’Rourke Elizaveta Mitkina Tabaksblat Jesper Bøje Andersen Carsten Palnæs Hansen Tim Svenstrup Poulsen Estrid V. S. Høgdall Jakob Hagen Vasehus Schou Dan Høgdall |
| author_facet | Rasmus Haunstrup Døssing Julia Johanna Almer Broman Colm J. O’Rourke Elizaveta Mitkina Tabaksblat Jesper Bøje Andersen Carsten Palnæs Hansen Tim Svenstrup Poulsen Estrid V. S. Høgdall Jakob Hagen Vasehus Schou Dan Høgdall |
| author_sort | Rasmus Haunstrup Døssing |
| collection | DOAJ |
| description | Abstract Background Small Bowel Adenocarcinoma (SBA) is a rare gastrointestinal cancer with a limited understanding of the molecular pathology. This study aims to bridge the knowledge gap, providing a robust molecular foundation for SBA and addressing the clinical challenges inherent in treating this orphan disease. The study proposes to redefine the clinical management for SBA patients through advanced molecular profiling techniques to improve potential precision medicine. Methods/design This National multicenter, observational cohort study combines retrospective and prospective analyses across Danish University Hospitals. The study enrolls patients diagnosed with SBA, retrospectively from 2009 and prospectively from 2022 onwards. Molecular profiling, including DNA, RNA, and T-cell receptor sequencing, will be conducted on SBA tissue samples. The primary outcome is to categorize SBA into consensus molecular-guided subgroups. Secondary outcomes include correlating these subgroups with clinical features, treatment responses, and patient outcomes. Machine learning algorithms will be employed for bioinformatic analyses to interpret molecular data. Ethical approval has been obtained, and patient consent will be secured for the retrospective study component. Discussion The molecular and clinical characterization of SBA is expected to add novel insights into the heterogeneity of this rare disease. By identifying molecular subgroups, the research could enable the development of personalized treatment strategies, a paradigm shift within SBA. The study acknowledges the challenges of working with orphan diseases, including limited patient numbers and diverse clinical presentations. However, its findings will have the potential to substantially impact future clinical practices and guide targeted therapies for SBA patients. Trial registration ClinicalTrials.gov NCT06234306. |
| format | Article |
| id | doaj-art-1ad23ca2ec8849ca9358a2ac819df2c1 |
| institution | Kabale University |
| issn | 1471-2407 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Cancer |
| spelling | doaj-art-1ad23ca2ec8849ca9358a2ac819df2c12025-01-12T12:27:38ZengBMCBMC Cancer1471-24072025-01-012511910.1186/s12885-024-13369-1Molecularly redefining small bowel adenocarcinoma to accelerate precision patient care – protocol of a multicenter observational cohort biomarker studyRasmus Haunstrup Døssing0Julia Johanna Almer Broman1Colm J. O’Rourke2Elizaveta Mitkina Tabaksblat3Jesper Bøje Andersen4Carsten Palnæs Hansen5Tim Svenstrup Poulsen6Estrid V. S. Høgdall7Jakob Hagen Vasehus Schou8Dan Høgdall9Department of Oncology, Copenhagen University Hospital – Herlev and GentofteDepartment of Oncology, Copenhagen University Hospital – Herlev and GentofteDepartment of Health and Medical Sciences, Biotech Research and Innovation Center, University of CopenhagenDepartment of Oncology, Aarhus University HospitalDepartment of Health and Medical Sciences, Biotech Research and Innovation Center, University of CopenhagenDepartment Surgical Gastroenterology, Copenhagen University Hospital – RigshospitaletDepartment of Pathology, Copenhagen University Hospital – Herlev and GentofteDepartment of Pathology, Copenhagen University Hospital – Herlev and GentofteDepartment of Oncology, Copenhagen University Hospital – Herlev and GentofteDepartment of Oncology, Copenhagen University Hospital – Herlev and GentofteAbstract Background Small Bowel Adenocarcinoma (SBA) is a rare gastrointestinal cancer with a limited understanding of the molecular pathology. This study aims to bridge the knowledge gap, providing a robust molecular foundation for SBA and addressing the clinical challenges inherent in treating this orphan disease. The study proposes to redefine the clinical management for SBA patients through advanced molecular profiling techniques to improve potential precision medicine. Methods/design This National multicenter, observational cohort study combines retrospective and prospective analyses across Danish University Hospitals. The study enrolls patients diagnosed with SBA, retrospectively from 2009 and prospectively from 2022 onwards. Molecular profiling, including DNA, RNA, and T-cell receptor sequencing, will be conducted on SBA tissue samples. The primary outcome is to categorize SBA into consensus molecular-guided subgroups. Secondary outcomes include correlating these subgroups with clinical features, treatment responses, and patient outcomes. Machine learning algorithms will be employed for bioinformatic analyses to interpret molecular data. Ethical approval has been obtained, and patient consent will be secured for the retrospective study component. Discussion The molecular and clinical characterization of SBA is expected to add novel insights into the heterogeneity of this rare disease. By identifying molecular subgroups, the research could enable the development of personalized treatment strategies, a paradigm shift within SBA. The study acknowledges the challenges of working with orphan diseases, including limited patient numbers and diverse clinical presentations. However, its findings will have the potential to substantially impact future clinical practices and guide targeted therapies for SBA patients. Trial registration ClinicalTrials.gov NCT06234306.https://doi.org/10.1186/s12885-024-13369-1Small bowel adenocarcinomaConsensus molecular subtypesDNARNAT-cell receptorMolecular-guided treatment strategies |
| spellingShingle | Rasmus Haunstrup Døssing Julia Johanna Almer Broman Colm J. O’Rourke Elizaveta Mitkina Tabaksblat Jesper Bøje Andersen Carsten Palnæs Hansen Tim Svenstrup Poulsen Estrid V. S. Høgdall Jakob Hagen Vasehus Schou Dan Høgdall Molecularly redefining small bowel adenocarcinoma to accelerate precision patient care – protocol of a multicenter observational cohort biomarker study BMC Cancer Small bowel adenocarcinoma Consensus molecular subtypes DNA RNA T-cell receptor Molecular-guided treatment strategies |
| title | Molecularly redefining small bowel adenocarcinoma to accelerate precision patient care – protocol of a multicenter observational cohort biomarker study |
| title_full | Molecularly redefining small bowel adenocarcinoma to accelerate precision patient care – protocol of a multicenter observational cohort biomarker study |
| title_fullStr | Molecularly redefining small bowel adenocarcinoma to accelerate precision patient care – protocol of a multicenter observational cohort biomarker study |
| title_full_unstemmed | Molecularly redefining small bowel adenocarcinoma to accelerate precision patient care – protocol of a multicenter observational cohort biomarker study |
| title_short | Molecularly redefining small bowel adenocarcinoma to accelerate precision patient care – protocol of a multicenter observational cohort biomarker study |
| title_sort | molecularly redefining small bowel adenocarcinoma to accelerate precision patient care protocol of a multicenter observational cohort biomarker study |
| topic | Small bowel adenocarcinoma Consensus molecular subtypes DNA RNA T-cell receptor Molecular-guided treatment strategies |
| url | https://doi.org/10.1186/s12885-024-13369-1 |
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