ArticleBMC cancer2022
Genetic analysis of Japanese patients with small bowel adenocarcinoma using next-generation sequencing.
Article in BMC cancer, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 9 citations in OpenAlex.
- Real-World Data of Comprehensive Genomic Profiles and Clinicopathological Characteristics of Duodenal Epithelial Neoplasms.Cancers · 2026Article
- Article
- Comprehensive genomic profiling of small bowel adenocarcinoma with liver metastasis.Journal of gastrointestinal oncology · 2025Article
- A small bowel adenocarcinoma harboring a DDR2 mutation in a celiac patient.Clinical journal of gastroenterology · 2024Article
- Molecular characterization of Chinese patients with small bowel adenocarcinoma.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2024Article
- Establishment of a novel small bowel adenocarcinoma cell line using patient‑derived xenografts, which produces CEA and CA19‑9.Oncology letters · 2024Article
- Clinical significance of programmed cell death-ligand expression in small bowel adenocarcinoma is determined by the tumor microenvironment.World journal of gastroenterology · 2023Article
- Molecular genetic positioning of small intestine and papilla of Vater carcinomas including clinicopathological classification.Cancer medicine · 2023Article
- Case Report: Primary small bowel adenocarcinoma with peritoneal metastasis responded well to a CapeOX + bevacizumab regimen.Frontiers in gastroenterology (Lausanne, Switzerland) · 2023Article
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Authors and funding
13 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSmall bowel adenocarcinomas (SBAs) are rare and there is little comprehensive data on SBA genomic alterations for Asian patients. This study aimed to profile genomic alterations of SBA in Japanese patients using targeted next-generation sequencing (NGS).
methodsWe examined 22 surgical resections from patients with primary SBA. SBA genomic alterations were analyzed by NGS. Mismatch repair (MMR) status was determined by immunohistochemical analysis. Mucin phenotypes were classified as gastric (G), intestinal (I), gastrointestinal (GI), and null (N) types on MUC2, MUC5AC, MUC6, and CD10 immunostaining.
resultsThe most common genomic alterations found in SBA tumors were TP53 (n = 16), followed by KRAS (n = 6), APC (n = 5), PIK3CA (n = 4), CTNNB1 (n = 3), KIT (n = 2), BRAF (n = 2), CDKN2A (n = 2), and PTEN (n = 2). Deficient MMR tumors were observed in 6 out of 22 patients. Tumor mucin phenotypes included 2 in G-type, 12 in I-type, 3 in GI-type, and 5 in N-type. APC and CTNNB1 mutations were not found in G-type and GI-type tumors. KRAS mutations were found in all tumor types except for G-type tumors. TP53 mutations were found in all tumor types. Although no single gene mutation was associated with overall survival (OS), we found that KRAS mutations were associated with significant worse OS in patients with proficient MMR tumors.
conclusionsSBA genomic alterations in Japanese patients do not differ significantly from those reports in Western countries. Tumor localization, mucin phenotype, and MMR status all appear to impact SBA gene mutations.
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