{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T13:04:59Z","timestamp":1761743099640,"version":"build-2065373602"},"reference-count":44,"publisher":"Cambridge University Press (CUP)","issue":"4","license":[{"start":{"date-parts":[[2025,8,18]],"date-time":"2025-08-18T00:00:00Z","timestamp":1755475200000},"content-version":"unspecified","delay-in-days":17,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["cambridge.org"],"crossmark-restriction":true},"short-container-title":["Twin Res Hum Genet"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Patients with familial adenomatous polyposis (FAP) have increased risk of hepatoblastoma (HB). We report monozygotic twins with HB in a FAP family. To explore genetic alterations in the HBs of the twins, we carried out whole exome sequencing (WES), RNA-seq, and immunohistochemical analyses of the tumors. Additional multiregional digital PCR was performed to profile clonality of each tumor. To determine a pathogenic germline variant in\n                    <jats:italic>APC<\/jats:italic>\n                    , Sanger sequencing was applied for the twins, the father, and the siblings of the father. A pathogenic variant of the\n                    <jats:italic>APC<\/jats:italic>\n                    gene was identified in the father as well as the twins. The WES of the HBs in the twins identified somatic mutations, including an\n                    <jats:italic>NRAS<\/jats:italic>\n                    mutation in the tumor of the first infant (C1), and an\n                    <jats:italic>ACVR2A<\/jats:italic>\n                    mutation in the tumor of the second infant (C2). No somatic mutations were identified in the genes associated with the Wnt signaling pathway. However, accumulation of \u03b2-catenin was found in the C1 and C2 tumors by immunohistochemical staining, suggesting activation of the Wnt signaling pathway. Digital PCR analysis revealed that the\n                    <jats:italic>NRAS<\/jats:italic>\n                    mutation was found in multiregional specimens of C1 and those of C2. The\n                    <jats:italic>ACVR2A<\/jats:italic>\n                    mutation was found in multiregional specimens of C2, whereas the mutation was also identified in those of C1. The existence of a shared somatic mutation may suggest that microchimerism took place in the development of HBs through the utero-placental circulatory system. Importantly, the initiation of tumorigenesis is thought to occur during the fetal period after organ development of the liver.\n                  <\/jats:p>","DOI":"10.1017\/thg.2025.10019","type":"journal-article","created":{"date-parts":[[2025,8,18]],"date-time":"2025-08-18T09:57:18Z","timestamp":1755511038000},"page":"346-354","update-policy":"https:\/\/doi.org\/10.1017\/policypage","source":"Crossref","is-referenced-by-count":0,"title":["Mutual Tissue Microchimerism of Hepatoblastomas in Monozygotic Twins From a Familial Adenomatous Polyposis Family"],"prefix":"10.1017","volume":"28","author":[{"given":"Atsuhiro","family":"Arisue","sequence":"first","affiliation":[{"name":"Iwate Medical University School of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kiyoshi","family":"Yamaguchi","sequence":"additional","affiliation":[{"name":"The University of 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Published by Cambridge University Press on behalf of International Society for Twin Studies","name":"copyright","label":"Copyright","group":{"name":"copyright_and_licensing","label":"Copyright and Licensing"}},{"value":"This is an Open Access article, distributed under the terms of the Creative Commons Attribution licence (https:\/\/creativecommons.org\/licenses\/by\/4.0\/), which permits unrestricted re-use, distribution and reproduction, provided the original article is properly cited.","name":"license","label":"License","group":{"name":"copyright_and_licensing","label":"Copyright and Licensing"}},{"value":"This content has been made available to all.","name":"free","label":"Free to read"}]}}