Mismatch repair deficiency as prognostic factor for stage III small bowel adenocarcinoma: A multicentric international study

Dig Liver Dis. 2023 Sep;55(9):1261-1269. doi: 10.1016/j.dld.2023.05.005. Epub 2023 May 24.

Abstract

Background: Small bowel adenocarcinoma (SBA) is a rare cancer with an aggressive behavior. No study has specifically addressed the putative prognostic role of mismatch repair status in stage III SBAs.

Aims: We aimed to investigate whether mismatch repair deficiency is associated with cancer-specific survival in a Western cohort of patients with stage III SBAs.

Methods: In this retrospective multicentric international cohort study, we enrolled 70 patients who underwent surgically resection for stage III SBAs and we analyzed the frequency of mismatch repair deficiency, tested by immunohistochemistry for mismatch repair proteins and by polymerase chain reaction for microsatellite instability, and its association with cancer-specific survival and other clinic-pathologic factors.

Results: We found sixteen (23%) patients with mismatch repair deficient adenocarcinoma, without discordance between immunohistochemical and polymerase chain reaction for microsatellite instability analyses. Mismatch repair deficiency proved to be associated with a better outcome both at univariable analysis (hazard ratio: 0.28, 95% confidence interval: 0.08-0.91, p: 0.035) and in bivariable models adjusted for patient age or gender, tumor site, pT4 stage, tumor budding, and perineural invasion.

Conclusion: This study highlights the importance of testing mismatch repair status to improve prognostic stratification in stage III SBAs.

Keywords: Celiac disease; Crohn's disease; Immune-mediated disorders; Immunotherapy.

MeSH terms

  • Adenocarcinoma* / genetics
  • Adenocarcinoma* / surgery
  • Cohort Studies
  • Colorectal Neoplasms* / pathology
  • DNA Mismatch Repair
  • Duodenal Neoplasms*
  • Humans
  • Microsatellite Instability
  • Prognosis
  • Retrospective Studies

Supplementary concepts

  • Turcot syndrome