{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T13:59:07Z","timestamp":1790258347054,"version":"4.1.0"},"reference-count":50,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,2,15]],"date-time":"2018-02-15T00:00:00Z","timestamp":1518652800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003142","name":"Fonds NutsOhra","doi-asserted-by":"publisher","award":["1303\u2010054"],"award-info":[{"award-number":["1303\u2010054"]}],"id":[{"id":"10.13039\/501100003142","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004543","name":"China Scholarship Council","doi-asserted-by":"publisher","award":["201306190123"],"award-info":[{"award-number":["201306190123"]}],"id":[{"id":"10.13039\/501100004543","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2018,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The Wnt\/\u03b2\u2010catenin pathway plays a central role in the pathogenesis of most hepatoblastomas (HBs), that is, up to 60\u201380% carry activating <jats:italic>CTNNB1<\/jats:italic> mutations. HBs can however also be the first manifestation of familial adenomatous polyposis (FAP). As this is a severe disease, it is important for the patient and related family members to firmly exclude FAP at an early stage. Current diagnosis largely depends on <jats:italic>APC<\/jats:italic> germline mutation detection on genomic DNA, which is associated with 10\u201320% false\u2010negative results. Here, we establish and validate a tissue\u2010based \u03b2\u2010catenin gene and immunohistochemical analysis, which complements germline mutation screening to exclude the diagnosis of FAP among HB patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Tumor tissues of 18 HB patients, including three FAP cases were subjected to <jats:italic>CTNNB1<\/jats:italic> exon 3 mutational analysis and immunohistochemistry comparing staining patterns for total and exon 3 specific \u03b2\u2010catenin antibodies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Our novel tissue\u2010based method reliably identified all three FAP patients. Their tumors were characterized by a wild\u2010type exon 3 sequence and a comparable nuclear staining for both antibodies. In contrast, the non\u2010FAP tumors carried missense <jats:italic>CTNNB1<\/jats:italic> mutations combined with a clearly reduced staining for the exon 3 antibody, or complete loss of staining in case of lesions with exon 3 deletions.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We have successfully established and validated a novel \u00df\u2010catenin gene and immunohistochemical diagnostic method, which, when combined with routine germline DNA testing, allows the exclusion of the diagnosis of FAP among HB patients.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pbc.26991","type":"journal-article","created":{"date-parts":[[2018,2,15]],"date-time":"2018-02-15T12:44:42Z","timestamp":1518698682000},"source":"Crossref","is-referenced-by-count":18,"title":["A novel tissue\u2010based \u00df\u2010catenin gene and immunohistochemical analysis to exclude familial adenomatous polyposis among children with hepatoblastoma tumors"],"prefix":"10.1002","volume":"65","author":[{"given":"Hendrikus J.","family":"Dubbink","sequence":"first","affiliation":[{"name":"Department of Pathology Erasmus MC Cancer Institute University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iris H.I.M.","family":"Hollink","sequence":"additional","affiliation":[{"name":"Clinical Genetics Erasmus MC Cancer Institute University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolina","family":"Avenca Valente","sequence":"additional","affiliation":[{"name":"Department of Pathology Erasmus MC Cancer Institute University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenhui","family":"Wang","sequence":"additional","affiliation":[{"name":"Gastroenterology and Hepatology Erasmus MC Cancer Institute University Medical Center  Rotterdam The 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