{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:26:09Z","timestamp":1745468769746,"version":"3.40.4"},"reference-count":14,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2021,1,25]],"date-time":"2021-01-25T00:00:00Z","timestamp":1611532800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2021,1,25]],"date-time":"2021-01-25T00:00:00Z","timestamp":1611532800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Rep Gastroenterol"],"abstract":"<jats:p>Duodenal tumors with a sporadic adenoma-carcinoma sequence are extremely rare. For such clinically suspected cases without a specific family history, performing a comprehensive gene search is important to understand the germline mutation background. We present a 68-year-old woman without a genetic or familial history of familial adenomatous polyposis (FAP), Peutz-Jeghers syndrome, or Lynch syndrome who presented to Kosei Hospital, Japan, with exertional dyspnea induced by abdominal pain lasting 3 weeks. A duodenal tumor was suspected by contrast-enhanced computed tomography. Esophagogastroduodenoscopy showed a lesion accompanied by a white microprotuberance on the descending part of the duodenum opposite the papilla, with a giant ulcerative lesion at the center of the white lesion. Biopsy revealed a low-grade adenoma, high-grade adenoma, and adenocarcinoma. Immunohistochemical analysis of the adenoma and adenocarcinoma showed Ki-67, p53, cytokeratin 20, caudal-type homeobox 2, and carcinoembryonic antigen positivity and cytokeratin 7 negativity. The findings suggested the presence of an adenoma-adenocarcinoma sequence in duodenal carcinoma. However, in the mutational analysis using next-generation sequencing, c.4348C&amp;#x3e;T (p.Arg1450Ter) mutation in APC was detected in all normal mucosal, adenoma, and carcinoma tissues. This mutation is common in FAP patients. Even if the presence of an adenoma-adenocarcinoma sequence in duodenal carcinoma is suggested in cases without a familial FAP history, as in this case, genetic analysis may reveal FAP. Thus, performing a comprehensive genetic analysis of duodenal carcinoma patients with a possible adenoma-carcinoma sequence is necessary to explore their genetic background. <\/jats:p>","DOI":"10.1159\/000510919","type":"journal-article","created":{"date-parts":[[2021,1,25]],"date-time":"2021-01-25T22:03:26Z","timestamp":1611612206000},"page":"62-69","source":"Crossref","is-referenced-by-count":0,"title":["Next-Generation Sequencing for Non-Ampullary Duodenal Carcinoma Suggesting the Existence of an Adenoma-Carcinoma Sequence"],"prefix":"10.1159","volume":"15","author":[{"given":"Tsubasa","family":"Yoshida","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yohei","family":"Kojima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryusuke","family":"Shimada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hidesato","family":"Tanabe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koichi","family":"Tabei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Osamu","family":"Yanagida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Nikaido","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kouki","family":"Ohtsuka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroaki","family":"Ohnishi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nobutsugu","family":"Abe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tadakazu","family":"Hisamatsu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinichi","family":"Takahashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2021,1,25]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2168.2002.02120.x"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002\/jcb.240501108"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1055\/s-2002-35414"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002\/path.2294"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(19900815)66:4<702::AID-CNCR2820660419>3.0.CO;2-Z"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.14309\/ctg.0000000000000053"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-018-0072-8"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1097\/00000658-198001000-00003"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.humpath.2013.07.030"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-4-22"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.47.8.709"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1136\/bmjgast-2019-000336"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.3892\/ol.2014.2210"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1007\/s00595-018-1649-4"}],"container-title":["Case Reports in Gastroenterology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/510919","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/510919","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:01:18Z","timestamp":1745424078000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000510919"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1,25]]},"references-count":14,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2021,5,3]]}},"URL":"https:\/\/doi.org\/10.1159\/000510919","archive":["Portico"],"relation":{},"ISSN":["1662-0631"],"issn-type":[{"type":"electronic","value":"1662-0631"}],"subject":[],"published":{"date-parts":[[2021,1,25]]}}}