BMC Cancer (Jan 2025)

Molecularly redefining small bowel adenocarcinoma to accelerate precision patient care – protocol of a multicenter observational cohort biomarker study

  • 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

DOI
https://doi.org/10.1186/s12885-024-13369-1
Journal volume & issue
Vol. 25, no. 1
pp. 1 – 9

Abstract

Read online

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.

Keywords