{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T23:50:23Z","timestamp":1790121023738,"version":"4.0.1"},"reference-count":14,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2007,1,22]],"date-time":"2007-01-22T00:00:00Z","timestamp":1169424000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2008,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Apert syndrome is an autosomal dominant disorder that results from gain\u2010of\u2010function mutations in the <jats:italic>FGFR2<\/jats:italic> gene. <jats:italic>FGFR2<\/jats:italic> also has been shown to be amplified in stomach and breast cancers. We report the case of a 13\u2010year\u2010old female with Apert syndrome who developed an ovarian dysgerminoma. The <jats:italic>FGFR2<\/jats:italic> exon 7 sequencing showed the classical Apert syndrome c.758C\u2009&gt;\u2009G transversion (p.Pro253Arg). The genomic analyses of the tumor cells showed low level gains and losses of several chromosomes. This is the second report of the association of Apert syndrome with cancer. Our observation raises the hypothesis of a role for <jats:italic>FGFR2<\/jats:italic> mutations in tumorigenesis. Pediatr Blood Cancer 2008;50:696\u2013698. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/pbc.21156","type":"journal-article","created":{"date-parts":[[2007,1,22]],"date-time":"2007-01-22T20:48:03Z","timestamp":1169498883000},"page":"696-698","source":"Crossref","is-referenced-by-count":18,"title":["Ovarian dysgerminoma and Apert syndrome"],"prefix":"10.1002","volume":"50","author":[{"given":"C\u00e9cile","family":"Rouzier","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Soler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Hofman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Brennetot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Bieth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Pedeutour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,1,9]]},"reference":[{"key":"e_1_2_5_2_2","first-page":"1310","article-title":"De l'acrocephalosyndactylie","volume":"23","author":"Apert M","year":"1906","journal-title":"Bull Mem Soc Med Hop Paris"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0295-165"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.1990.8.4.715"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergencyto.2006.01.004"},{"key":"e_1_2_5_6_2","first-page":"3025","article-title":"DNA copy number changes in malignant ovarian germ cell tumors","volume":"60","author":"Kraggerud SM","year":"2000","journal-title":"Cancer Res"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/modpathol.3800576"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.87.15.5983"},{"key":"e_1_2_5_9_2","first-page":"659","article-title":"BEK and FLG, two receptors to members of the FGF family, are amplified in subsets of human breast cancers","volume":"6","author":"Adnane J","year":"1991","journal-title":"Oncogene"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/0165-4608(93)90217-A"},{"key":"e_1_2_5_11_2","first-page":"3541","article-title":"Mutations in fibroblast growth factor receptor 2 and fibroblast growth factor receptor 3 genes associated with human gastric and colorectal cancers","volume":"61","author":"Jang JH","year":"2001","journal-title":"Cancer Res"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1158\/1541-7786.643.2.11"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/path.1816"},{"key":"e_1_2_5_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1208150"},{"key":"e_1_2_5_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0363-5023(87)80220-4"}],"container-title":["Pediatric Blood &amp; Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.21156","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pbc.21156","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,9]],"date-time":"2023-10-09T19:59:10Z","timestamp":1696881550000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/pbc.21156"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,1,9]]},"references-count":14,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2008,3]]}},"alternative-id":["10.1002\/pbc.21156"],"URL":"https:\/\/doi.org\/10.1002\/pbc.21156","archive":["Portico"],"relation":{},"ISSN":["1545-5009","1545-5017"],"issn-type":[{"value":"1545-5009","type":"print"},{"value":"1545-5017","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,1,9]]}}}