International Session (Panel Discussion)1 (JSGE, JGES, JSH, JSGS)
October 31, 9:30–12:00, Room 9 (Portopia Hotel Main Building Kairaku 3)
IS-PD1-2_G
Genomic Landscape and Prognostic Role of Homologous Recombination Repair Gene Mutations in Small Bowel Adenocarcinoma
Yoshiyasu Kono1
Co-authors: Toshiki Ozato1, Motoyuki Otsuka1
1
Department of Gastroenterology and Hepatology, Faculty of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Background: Small bowel adenocarcinoma (SBA) is a rare malignancy with a poor prognosis. The role of homologous recombination repair (HRR) gene mutations in SBA remains unclear. Methods: We analyzed 628 patients with SBA from the Center for Cancer Genomics and Advanced Therapeutics (C-CAT) database, comparing HRR mutation-positive and mutation-negative groups. Tumor mutational burden (TMB), microsatellite instability (MSI), chemotherapy response, and overall survival (OS) were assessed. Results: HRR mutations were associated with higher TMB and MSI-high status (P < 0.0001). In duodenal adenocarcinoma, HRR mutations correlated with longer OS (P = 0.040) and better platinum-based chemotherapy response (P = 0.046), but no significance was observed in small intestinal carcinoma. Conclusion: HRR mutations may serve as biomarkers for platinum-based chemotherapy in SBA, particularly in duodenal adenocarcinoma, highlighting the need for site-specific therapies.
Index Term 1: Homologous recombination repair gene