{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T01:18:50Z","timestamp":1790731130522,"version":"4.1.0"},"reference-count":51,"publisher":"Wiley","issue":"20","license":[{"start":{"date-parts":[[2024,10,22]],"date-time":"2024-10-22T00:00:00Z","timestamp":1729555200000},"content-version":"vor","delay-in-days":21,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000872","name":"Pelican Cancer Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000872","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Cancer Medicine"],"published-print":{"date-parts":[[2024,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background and Aim<\/jats:title><jats:p>Pseudomyxoma peritonei (PMP) is an unusual condition with unique behaviour caused by a mucinous neoplasm, usually arising from the appendix. The aim of this study was to evaluate the prevalence of genomic alterations in clinical specimens of PMP using a targeted assay and correlate the findings with clinical, pathological and outcome data. Sequencing data from 223 patients were analysed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The median follow\u2010up interval was 48\u2009months. The primary neoplasm was appendiceal in 216 patients, ovarian in 4, urachal in 2 and renal in one. We confirmed common mutations in <jats:italic>GNAS<\/jats:italic> and <jats:italic>KRAS<\/jats:italic> (42% each) with significant co\u2010occurrence of variants in these genes. <jats:italic>TP53<\/jats:italic> mutations were found in 8%. Other mutations were rare but included novel mutations in <jats:italic>BAP1<\/jats:italic> and <jats:italic>ERBB4<\/jats:italic>. Of 17 patients with acellular peritoneal mucin, 6 (35%) were positive for DNA mutations. The non\u2010appendiceal cases generally showed a similar mutational landscape to the appendiceal lesions with <jats:italic>GNAS<\/jats:italic> and <jats:italic>KRAS<\/jats:italic> commonly mutated, although one urachal lesion showed multi\u2010hit <jats:italic>TP53<\/jats:italic> mutation without variants in either <jats:italic>GNAS<\/jats:italic> or <jats:italic>KRAS<\/jats:italic>. Survival was significantly associated with the grade of the primary neoplasm, the grade of the peritoneal disease, the completeness of cytoreduction score and with mutation in either <jats:italic>GNAS<\/jats:italic>, <jats:italic>KRAS<\/jats:italic> or both. The hazard ratio (HR) associated with mutation in <jats:italic>GNAS<\/jats:italic> and\/or <jats:italic>KRAS<\/jats:italic> was 1.87 (<jats:italic>p<\/jats:italic>\u2009=\u20090.004).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Survival outcome was more closely associated with the grade of the peritoneal disease than with the grade of the primary neoplasm. Our findings support the developing concept that mutational analysis may provide prognostic information in patients with PMP.<\/jats:p><\/jats:sec>","DOI":"10.1002\/cam4.70340","type":"journal-article","created":{"date-parts":[[2024,10,22]],"date-time":"2024-10-22T11:39:08Z","timestamp":1729597148000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Targeted Genetic Sequencing Analysis of 223 Cases of Pseudomyxoma Peritonei Treated by Cytoreductive Surgery and Hyperthermic Intraperitoneal Chemotherapy Shows Survival Related to <scp><i>GNAS<\/i><\/scp> and <scp><i>KRAS<\/i><\/scp> Status"],"prefix":"10.1002","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0973-8285","authenticated-orcid":false,"given":"Jane","family":"Gibson","sequence":"first","affiliation":[{"name":"Cancer Sciences, Faculty of Medicine University of Southampton  Southampton UK"},{"name":"Bio\u2010R Bioinformatics Research Facility, Faculty of Medicine University of Southampton  Southampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reuben\u00a0J.","family":"Pengelly","sequence":"additional","affiliation":[{"name":"Human Development and Health, Faculty of Medicine University of Southampton  Southampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amatta","family":"Mirandari","sequence":"additional","affiliation":[{"name":"Cancer Sciences, Faculty of Medicine University of Southampton  Southampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Konstantinos","family":"Boukas","sequence":"additional","affiliation":[{"name":"Wessex Investigational Sciences Hub, Cancer Sciences, Faculty of Medicine University of Southampton, Southampton General Hospital  Southampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophia","family":"Stanford","sequence":"additional","affiliation":[{"name":"Peritoneal Malignancy Institute Basingstoke and North Hampshire Hospital  Basingstoke UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas\u00a0Desmond","family":"Cecil","sequence":"additional","affiliation":[{"name":"Peritoneal Malignancy Institute Basingstoke and North Hampshire Hospital  Basingstoke UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Faheez","family":"Mohamed","sequence":"additional","affiliation":[{"name":"Peritoneal Malignancy Institute Basingstoke and North Hampshire Hospital  Basingstoke UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanjeev\u00a0Paul","family":"Dayal","sequence":"additional","affiliation":[{"name":"Peritoneal Malignancy Institute Basingstoke and North Hampshire Hospital  Basingstoke UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexios","family":"Tzivanakis","sequence":"additional","affiliation":[{"name":"Peritoneal Malignancy Institute Basingstoke and North Hampshire Hospital  Basingstoke UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brendan\u00a0John","family":"Moran","sequence":"additional","affiliation":[{"name":"Peritoneal Malignancy Institute Basingstoke and North Hampshire Hospital  Basingstoke UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex","family":"Mirnezami","sequence":"additional","affiliation":[{"name":"Cancer Sciences, Faculty of Medicine University of Southampton  Southampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norman\u00a0John","family":"Carr","sequence":"additional","affiliation":[{"name":"Human Development and Health, Faculty of Medicine University of Southampton  Southampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Ennis","sequence":"additional","affiliation":[{"name":"Human Development and Health, Faculty of Medicine University of Southampton  Southampton 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