{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,30]],"date-time":"2025-06-30T14:33:26Z","timestamp":1751294006671,"version":"3.40.4"},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2025,2,28]],"date-time":"2025-02-28T00:00:00Z","timestamp":1740700800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,2,28]],"date-time":"2025-02-28T00:00:00Z","timestamp":1740700800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Int J Clin Oncol"],"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Appendiceal carcinoma (AC) is a rare malignancy and has distinct genomic features, but\u00a0their impact on prognosis and chemotherapy efficacy requires further investigation.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>This retrospective study analyzed patients with advanced AC from the Japanese nationwide comprehensive genomic profiling test database, the Center for Cancer Genomics and Advanced Therapeutics (C-CAT) database, focusing on genetic alterations and their associations with clinical outcomes.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>Of the 314 patients, the histological types Queryincluded adenocarcinoma (Ad) (51.9%), mucinous adenocarcinoma (MAd) (30.3%), goblet cell adenocarcinoma (12.4%), and signet-ring cell adenocarcinoma (5.4%). The most common mutations were <jats:italic>KRAS<\/jats:italic> (52.5%), <jats:italic>TP53<\/jats:italic> (49.4%), <jats:italic>SMAD4<\/jats:italic> (18.8%), and <jats:italic>GNAS<\/jats:italic> (17.2%). <jats:italic>KRAS<\/jats:italic> mutations were most frequent in MAd (68.4%) and Ad (58.9%), whereas <jats:italic>TP53<\/jats:italic> mutations were mostly prevalent in Ad (62.6%). We classified patients into molecular subtypes based on the presence of mutations and analyzed differences in overall survival (OS) by molecular subtype. Patients with <jats:italic>TP53<\/jats:italic>-mutant (mut) dominant tumors (all <jats:italic>TP53<\/jats:italic>-mut) and <jats:italic>KRAS<\/jats:italic>-mut focused tumors (<jats:italic>TP53<\/jats:italic>-wild-type (wt)\/<jats:italic>GNAS<\/jats:italic>-wt\/<jats:italic>KRAS<\/jats:italic>-mut\/any <jats:italic>SMAD4<\/jats:italic>) showed a poorer median OS compared with those with <jats:italic>GNAS<\/jats:italic>-mut focused tumors (<jats:italic>TP53<\/jats:italic>-wt\/<jats:italic>GNAS<\/jats:italic>-mut\/any <jats:italic>KRAS<\/jats:italic> \/any <jats:italic>SMAD4<\/jats:italic>) (median 47.4 and 37.5\u00a0months vs. not reached; <jats:italic>p<\/jats:italic>\u2009=\u20090.01 and <jats:italic>p<\/jats:italic>\u2009=\u20090.01, respectively). <jats:italic>TP53<\/jats:italic> mutation was associated with poor time to treatment failure and OS with the oxaliplatin-based regimen for first-line chemotherapy.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>This study suggested that the genetic mutations influenced the prognosis and chemotherapy efficacy in AC.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1007\/s10147-025-02724-2","type":"journal-article","created":{"date-parts":[[2025,2,28]],"date-time":"2025-02-28T16:07:35Z","timestamp":1740758855000},"page":"914-925","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Impact of genetic mutations on prognosis and chemotherapy efficacy in advanced appendiceal carcinoma: insights from the nationwide Japanese comprehensive genomic profiling test database"],"prefix":"10.1007","volume":"30","author":[{"given":"Sakura Hiraide","family":"Taniguchi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9306-7041","authenticated-orcid":false,"given":"Masanobu","family":"Takahashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shih-Wei","family":"Chiu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keigo","family":"Komine","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shonosuke","family":"Wakayama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryunosuke","family":"Numakura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuya","family":"Yoshida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuki","family":"Kasahara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kota","family":"Ouchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroo","family":"Imai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ken","family":"Saijo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hidekazu","family":"Shirota","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chikashi","family":"Ishioka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,2,28]]},"reference":[{"issue":"2","key":"2724_CR1","doi-asserted-by":"publisher","first-page":"213","DOI":"10.1002\/cncr.29744","volume":"122","author":"EA Asare","year":"2016","unstructured":"Asare EA, Compton CC, Hanna NN et al (2016) The impact of stage, grade, and mucinous histology on the efficacy of systemic chemotherapy in adenocarcinomas of the appendix: analysis of the national cancer data base. 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Chikashi Ishioka received research funding from Chugai Pharmaceutical, Taiho Pharmaceutical, Daiichi Sankyo Company, Asahi Kasei Pharma, Bayer Yakuhin, Takeda Pharmaceutical, Ono Pharmaceutical and received honoraria from Chugai Pharmaceutical and Daiichi Sankyo Company, and representatives of the Tohoku Clinical Oncology Research and Education Society, a specified nonprofit corporation. Ken Saijo received research funding from Adlai Norty and Takeda Science Foundation. The other authors declare no conflicts of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}