ArticleBritish journal of cancer2024
Genomic profiling of small bowel adenocarcinoma: a pooled analysis from 3 databases.
Article in British journal of cancer, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Tumours of the duodenum and the ampulla of Vater: An overview of the key criteria for their classification, pathogenesis, and molecular assessment.Virchows Archiv : an international journal of pathology · 2026Review
- A retrospective analysis of taxane-based chemotherapy in small bowel adenocarcinoma.The oncologist · 2026Article
- A case report and literature review of duodenal adenocarcinoma with complete loss of mismatch repair proteins.Frontiers in oncology · 2026Article
- Unravelling the genetics and epigenetics of the ageing tumour microenvironment in cancer.Nature reviews. Cancer · 2025Review
- Rapamycin suppresses small bowel adenocarcinoma HUTU 80 cells proliferation by inhibiting hypoxia-inducible factor-1α mediated metabolic reprogramming.World journal of gastrointestinal oncology · 2025Article
- Predisposing conditions in patients with small intestinal adenocarcinomas in the Netherlands: A 20-year nationwide cohort study.International journal of cancer · 2025Article
- Exploring novel therapeutic targets in small bowel adenocarcinoma: insights from claudin 18.2, nectin-4, and HER3 expression analysis.ESMO open · 2025Article
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21 authors.
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Abstract
backgroundSmall bowel adenocarcinoma is a rare disease. The genomic profiling tumours according to clinical characteristics and its impact on the prognosis remains unclear.
methodsA pooled analysis of clinical data, genomic profiling and MisMatch Repair (MMR) status from three databases was performed.
resultsA total of 188 tumour samples were analysed. A predisposing disease was reported in 22.3%, mainly Lynch syndrome and Crohn's disease. The tumours were localized in 80.2% and metastatic in 18.8%. The most frequent mutations were KRAS (42.0%) among them 7/79 are G12C, TP53 (40.4%), APC (19.1%), PIK3CA (18.6%), SMAD4 (12.8%) and ERBB2 (9.6%). Mutation distribution differed according to predisposing disease for TP53, ERBB2, IDH1, FGFR3, FGFR1 and KDR. KRAS and SMAD4 mutations were more frequent in metastatic tumour, whereas ERBB2 mutations were absent in metastatic tumour. For localized tumour, APC mutation was independently associated with a poor overall survival (OS) (p = 0.0254). 31.8% of localized tumours and 11.3% of metastatic tumours were dMMR (29.8% of the entire cohort). A dMMR status was associated with a better OS (HR = 0.61 [0.39-0.96], p = 0.0316).
conclusionsThere is a different genomic profile according to the stage and predisposing disease. dMMR and APC mutation in localized tumour predict a better prognosis.
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