{"title":"Clinicopathological and Genetic Features in Superficial Nonampullary Duodenal Epithelial Tumors.","authors":"Atsushi Sawada, Kingo Hirasawa, Makoto Sugimori, Yuichiro Ozeki, Ryosuke Ikeda, Masafumi Nishio, Takehide Fukuchi, Ryosuke Kobayashi, Hiroaki Kaneko, Chiko Sato, Yoshiaki Inayama, Chikara Kunisaki, Shin Maeda","doi":"10.1155/grp/1063863","DOIUrl":null,"url":null,"abstract":"<p><p><b>Background and Aim:</b> Superficial nonampullary duodenal epithelial tumors (SNADETs) that are pathologically classified as gastric-type might manifest a more aggressive behavior than the intestinal type. However, the details of their histologic and genetic features remain unclear because of their rarity. This study was aimed at identifying clinicopathological findings and early genomic events in gastric-type SNADETs treated with endoscopic resection. <b>Methods:</b> We retrospectively analyzed 204 patients with SNADETs between January 2011 and September 2020. Immunohistochemical analysis for <i>β</i>-catenin and targeted exome sequence analysis of 50 cancer-related genes using next-generation sequencing were performed for the representative cases. <b>Results:</b> Among the 204 SNADETs cases, only nine (4.4%) were gastric type; the remaining 195 cases were intestinal type. Among the gastric-type tumors, seven were adenomas and two were adenocarcinomas, whereas only three of the 195 intestinal-type tumors were adenocarcinomas. Nuclear expression of <i>β</i>-catenin was observed in three of the nine (33%) gastric-type tumors and in eight of the 10 (80%) intestinal-type tumors. The most prevalent abnormality among the 50 genes tested in gastric-type tumors was <i>GNAS</i> mutation (89%), whereas that in intestinal-type tumors was <i>APC</i> mutation (67%). All gastric-type adenocarcinomas had <i>GNAS</i> mutations as well as adenomas, while <i>APC</i> mutations were absent in intestinal-type adenocarcinomas and present in most adenomas. <b>Conclusions:</b> <i>GNAS</i> mutations are more common in gastric-type SNADETs than in the intestinal type. As <i>GNAS</i> mutations are continuously present from adenoma to adenocarcinoma, resection at the adenoma stage is desirable.</p>","PeriodicalId":12597,"journal":{"name":"Gastroenterology Research and Practice","volume":"2025 ","pages":"1063863"},"PeriodicalIF":2.0000,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12133369/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Gastroenterology Research and Practice","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1155/grp/1063863","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"GASTROENTEROLOGY & HEPATOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Background and Aim: Superficial nonampullary duodenal epithelial tumors (SNADETs) that are pathologically classified as gastric-type might manifest a more aggressive behavior than the intestinal type. However, the details of their histologic and genetic features remain unclear because of their rarity. This study was aimed at identifying clinicopathological findings and early genomic events in gastric-type SNADETs treated with endoscopic resection. Methods: We retrospectively analyzed 204 patients with SNADETs between January 2011 and September 2020. Immunohistochemical analysis for β-catenin and targeted exome sequence analysis of 50 cancer-related genes using next-generation sequencing were performed for the representative cases. Results: Among the 204 SNADETs cases, only nine (4.4%) were gastric type; the remaining 195 cases were intestinal type. Among the gastric-type tumors, seven were adenomas and two were adenocarcinomas, whereas only three of the 195 intestinal-type tumors were adenocarcinomas. Nuclear expression of β-catenin was observed in three of the nine (33%) gastric-type tumors and in eight of the 10 (80%) intestinal-type tumors. The most prevalent abnormality among the 50 genes tested in gastric-type tumors was GNAS mutation (89%), whereas that in intestinal-type tumors was APC mutation (67%). All gastric-type adenocarcinomas had GNAS mutations as well as adenomas, while APC mutations were absent in intestinal-type adenocarcinomas and present in most adenomas. Conclusions:GNAS mutations are more common in gastric-type SNADETs than in the intestinal type. As GNAS mutations are continuously present from adenoma to adenocarcinoma, resection at the adenoma stage is desirable.
期刊介绍:
Gastroenterology Research and Practice is a peer-reviewed, Open Access journal which publishes original research articles, review articles and clinical studies based on all areas of gastroenterology, hepatology, pancreas and biliary, and related cancers. The journal welcomes submissions on the physiology, pathophysiology, etiology, diagnosis and therapy of gastrointestinal diseases. The aim of the journal is to provide cutting edge research related to the field of gastroenterology, as well as digestive diseases and disorders.
Topics of interest include:
Management of pancreatic diseases
Third space endoscopy
Endoscopic resection
Therapeutic endoscopy
Therapeutic endosonography.