{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T23:53:45Z","timestamp":1785196425677,"version":"3.55.0"},"reference-count":19,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2015,10,16]],"date-time":"2015-10-16T00:00:00Z","timestamp":1444953600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["#23790126"],"award-info":[{"award-number":["#23790126"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Cancer Medicine"],"published-print":{"date-parts":[[2015,12]]},"abstract":"Abstract<\/jats:title>Pseudomyxoma peritonei (PMP<\/jats:styled-content>) is a rare disease exhibiting a distinct clinical feature caused by cancerous cells that produce mucinous fluid in the abdominal cavity. PMP<\/jats:styled-content>s originate most frequently from the appendix and less frequently from the ovary. This disease can range from benign to malignant, and histologically, PMP<\/jats:styled-content> is classified into two types: disseminated peritoneal adenomucinosis (DPAM<\/jats:styled-content>) representing the milder phenotype, and peritoneal mucinous adenocarcinomas (PMCA<\/jats:styled-content>) representing the aggressive phenotype. Although histological classification is clinically useful, the pathogenesis of PMP<\/jats:styled-content> remains largely unknown. To elucidate the molecular mechanisms underlying PMP<\/jats:styled-content>, we analyzed 18 PMP<\/jats:styled-content> tumors comprising 10 DPAM<\/jats:styled-content>s and 8 PMCA<\/jats:styled-content>s. DNA<\/jats:styled-content> was extracted from tumor and matched non\u2010tumorous tissues, and was sequenced using Ion AmpliSeq Cancer Panel containing 50 cancer\u2010related genes. Analysis of the data identified a total of 35 somatic mutations in 10 genes, and all mutations were judged as pathological mutations. Mutations were frequently identified in KRAS<\/jats:styled-content><\/jats:italic> (14\/18) and GNAS<\/jats:styled-content><\/jats:italic> (8\/18). Interestingly, TP<\/jats:styled-content>53<\/jats:italic> mutations were found in three of the eight PMCA<\/jats:styled-content>s, but not in the DPAM<\/jats:styled-content>s. PIK<\/jats:styled-content>3CA<\/jats:styled-content><\/jats:italic> and AKT<\/jats:styled-content>1<\/jats:italic> mutations were also identified in two PMCA<\/jats:styled-content>s, but not in the DPAM<\/jats:styled-content>s. These results suggested that KRAS<\/jats:styled-content><\/jats:italic> and\/or GNAS<\/jats:styled-content><\/jats:italic> mutations are common genetic features of PMP<\/jats:styled-content>, and that mutations in TP<\/jats:styled-content>53<\/jats:italic> and\/or genes related to the PI<\/jats:styled-content>3K\u2010AKT<\/jats:styled-content> pathway may render malignant properties to PMP<\/jats:styled-content>. These findings may be useful for the understanding of tumor characteristics, and facilitate the development of therapeutic strategies.<\/jats:p>","DOI":"10.1002\/cam4.542","type":"journal-article","created":{"date-parts":[[2015,10,17]],"date-time":"2015-10-17T08:50:37Z","timestamp":1445071837000},"page":"1809-1816","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":65,"title":["Molecular profiles of high\u2010grade and low\u2010grade pseudomyxoma peritonei"],"prefix":"10.1002","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1180-2394","authenticated-orcid":false,"given":"Rei","family":"Noguchi","sequence":"first","affiliation":[{"name":"Division of Clinical Genome Research The Institute of Medical Science The University of Tokyo Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideaki","family":"Yano","sequence":"additional","affiliation":[{"name":"Department of Surgery National Center for Global Health and Medicine Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshimasa","family":"Gohda","sequence":"additional","affiliation":[{"name":"Department of Surgery National Center for Global Health and Medicine Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryuichiro","family":"Suda","sequence":"additional","affiliation":[{"name":"Department of Surgery National Center for Global Health and Medicine Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toru","family":"Igari","sequence":"additional","affiliation":[{"name":"Pathology Division of Clinical Laboratory National Center for Global Health and Medicine Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasunori","family":"Ohta","sequence":"additional","affiliation":[{"name":"Department of Pathology, Research Hospital The Institute of Medical Science The University of Tokyo Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naohide","family":"Yamashita","sequence":"additional","affiliation":[{"name":"Department of Advanced Medical Science Research Hospital The Institute of Medical Science The University of Tokyo Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiyoshi","family":"Yamaguchi","sequence":"additional","affiliation":[{"name":"Division of Clinical Genome Research The Institute of Medical Science The University of Tokyo Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yumi","family":"Terakado","sequence":"additional","affiliation":[{"name":"Division of Clinical Genome Research The Institute of Medical Science The University of Tokyo Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsuneo","family":"Ikenoue","sequence":"additional","affiliation":[{"name":"Division of Clinical Genome Research The Institute of Medical Science The University of Tokyo Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoichi","family":"Furukawa","sequence":"additional","affiliation":[{"name":"Division of Clinical Genome Research The Institute of Medical Science The University of Tokyo Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,10,16]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"591","article-title":"Pseudomyxoma peritonei. A clinicopathologic study of 19 cases with emphasis on site of origin and nature of associated ovarian tumors","volume":"18","author":"Prayson R. A.","year":"1994","journal-title":"Am. J. Surg. Pathol."},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejso.2007.04.002"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000478-200308000-00006"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.pas.0000202039.74837.7d"},{"key":"e_1_2_7_6_1","first-page":"49","article-title":"Current methodologies for clinical assessment of patients with peritoneal carcinomatosis","volume":"15","author":"Jacquet P.","year":"1996","journal-title":"J. Exp. Clin. Canc. 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