{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T07:37:42Z","timestamp":1790753862738,"version":"4.1.0"},"reference-count":23,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,12,18]],"date-time":"2017-12-18T00:00:00Z","timestamp":1513555200000},"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 & Cancer"],"published-print":{"date-parts":[[2018,4]]},"abstract":"Abstract<\/jats:title>Background<\/jats:title>Conflicting reports on the frequency of germline adenomatous polyposis coli (APC<\/jats:italic>) gene mutations in patients with hepatoblastoma (HB) have called into question the clinical value of APC<\/jats:italic> mutation testing on apparently sporadic HB.<\/jats:p><\/jats:sec>Methods<\/jats:title>An Institutional Review Board approved retrospective review of clinical data collected from patients with HB who received APC<\/jats:italic> testing at our institution was conducted. All HB patients seen at Cincinnati Children's Hospital Medical Center were eligible for testing. Potential genotype\/phenotype correlations were assessed.<\/jats:p><\/jats:sec>Results<\/jats:title>As of July 2015, 29 patients with HB had received constitutional APC<\/jats:italic> testing. Four (14%) were found to have APC<\/jats:italic> pathogenic truncations of the APC protein and in addition two (7%) had APC<\/jats:italic> missense variants of unknown clinical significance. Two patients (7%) had family histories indicative of familial adenomatous polyposis (FAP). Response to chemotherapy tracked differently in APC<\/jats:italic> pathogenic cases, with a slower imaging response despite an equivalent or slightly faster \u03b1\u2010fetoprotein (AFP) response.<\/jats:p><\/jats:sec>Conclusion<\/jats:title>The prevalence of pathogenic APC<\/jats:italic> variants in apparently sporadic HB may be higher than previously detected. Differences in time to imaging response, despite similar AFP response, may impact surgical planning. All patients with HB warrant germline APC<\/jats:italic> mutation testing for underlying FAP.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pbc.26892","type":"journal-article","created":{"date-parts":[[2017,12,18]],"date-time":"2017-12-18T13:09:14Z","timestamp":1513602554000},"source":"Crossref","is-referenced-by-count":31,"title":["Germline APC<\/i> mutations in hepatoblastoma"],"prefix":"10.1002","volume":"65","author":[{"given":"Adeline","family":"Yang","sequence":"first","affiliation":[{"name":"University of Cincinnati College of Medicine Cincinnati Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Sisson","sequence":"additional","affiliation":[{"name":"Department of Genetics, Cincinnati Children's Hospital Medical Center University of Cincinnati Cincinnati Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Gupta","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Cincinnati Children's Hospital Medical Center Cincinnati Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Greg","family":"Tiao","sequence":"additional","affiliation":[{"name":"Department of Surgery, Cincinnati Children's Hospital Medical Center University of Cincinnati Cincinnati Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5181-116X","authenticated-orcid":false,"given":"James I.","family":"Geller","sequence":"additional","affiliation":[{"name":"Division of Oncology, Cincinnati Children's Hospital Medical Center University of Cincinnati Cincinnati Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,12,18]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.20698"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430621"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)80297-5"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0b013e318174e808"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biocel.2009.07.012"},{"issue":"11","key":"e_1_2_7_7_1","doi-asserted-by":"crossref","first-page":"888","DOI":"10.7196\/SAMJ.6138","article-title":"Lessons from the hepatoblastoma\u2010familial polyposis connection","volume":"102","author":"Moore SW","year":"2012","journal-title":"S Afr Med J."},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-012-9538-2"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0b013e31828aeb18"},{"issue":"14","key":"e_1_2_7_10_1","first-page":"3320","article-title":"Somatic mutations of the APC gene in sporadic hepatoblastomas","volume":"56","author":"Oda H","year":"1996","journal-title":"Cancer Res."},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/mpo.10362"},{"issue":"2","key":"e_1_2_7_12_1","first-page":"269","article-title":"Childhood hepatoblastomas frequently carry a mutated degradation targeting box of the beta\u2010catenin gene","volume":"59","author":"Koch A","year":"1999","journal-title":"Cancer Res."},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.humpath.2008.07.022"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-4-22"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02053203"},{"issue":"21","key":"e_1_2_7_16_1","first-page":"5007","article-title":"Biallelic inactivation of the APC gene in hepatoblastoma","volume":"55","author":"Kurahashi H","year":"1995","journal-title":"Cancer Res."},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/modpathol.3800977"},{"key":"e_1_2_7_18_1","unstructured":"GilgerM.Pediatric Gardner Syndrome. 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