{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T03:19:31Z","timestamp":1787800771495,"version":"build-2784847793"},"reference-count":30,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2019,6,24]],"date-time":"2019-06-24T00:00:00Z","timestamp":1561334400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100005762","name":"National Taiwan University Hospital","doi-asserted-by":"publisher","award":["106\u2010M3635"],"award-info":[{"award-number":["106\u2010M3635"]}],"id":[{"id":"10.13039\/501100005762","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pancreatoblastoma is a rare type of pancreatic cancer in children. Here, we describe a case in which Beckwith\u2010Wiedemann syndrome (BWS) was first suspected because of placental mesenchymal dysplasia. Although the baby did not show the stigmata characteristic of BWS or abnormal peripheral blood methylation, she developed a massive pancreatoblastoma 2\u2009months later. She survived after partial excision of the tumor and chemotherapy. The methylation pattern of the pancreatoblastoma tissue was typical of BWS. Single nucleotide polymorphism (SNP) array analyzes revealed that the pancreatoblastoma tissue had genome\u2010wide loss of maternal alleles. Peripheral blood and nontumor pancreatic tissue showed normal biparental genomic contribution. Interphase fluorescence in situ hybridization analysis with centromeric probes for chromosomes 2 and 11 revealed haploid pancreatoblastoma cells, whereas the placental mesenchymal dysplasia tissue and nontumor pancreas tissue showed diploidy. SNP genotype analysis suggested the presence of mosaicism with the pancreatoblastoma tissue having a different paternal haplotype than that of the peripheral blood and nontumor pancreatic tissue. We report for the first time mosaic paternal haploidy associated with pancreatoblastoma. Babies with placental mesenchymal dysplasia, even those without a definitive diagnosis of BWS, need to be closely followed for the occurrence of embryonic tumors.<\/jats:p>","DOI":"10.1002\/ajmg.a.61276","type":"journal-article","created":{"date-parts":[[2019,6,24]],"date-time":"2019-06-24T07:50:02Z","timestamp":1561362602000},"page":"1878-1883","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith\u2013Wiedemann spectrum"],"prefix":"10.1002","volume":"179","author":[{"given":"Cheng\u2010Ting","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Pediatrics National Taiwan University Hospital and National Taiwan University College of Medicine  Taipei Taiwan"},{"name":"Graduate Institute of Clinical Medicine National Taiwan University College of Medicine  Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi\u2010Ching","family":"Tung","sequence":"additional","affiliation":[{"name":"Department of Pediatrics National Taiwan University Hospital and National Taiwan University College of Medicine  Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wuh\u2010Liang","family":"Hwu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics National Taiwan University Hospital and National Taiwan University College of Medicine  Taipei Taiwan"},{"name":"Department of Medical Genetics National Taiwan University Hospital  Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin\u2010Chung","family":"Shih","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology National Taiwan University Hospital and National Taiwan University College of Medicine  Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen\u2010Hsi","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Surgery National Taiwan University Hospital and National Taiwan University College of Medicine  Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mu\u2010Zon","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Pathology National Taiwan University Hospital and National Taiwan University College of Medicine  Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kuan\u2010Ting","family":"Kuo","sequence":"additional","affiliation":[{"name":"Department of Pathology National Taiwan University Hospital and National Taiwan University College of Medicine  Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yung\u2010Li","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics National Taiwan University Hospital and National Taiwan University College of Medicine  Taipei Taiwan"},{"name":"Department of Laboratory Medicine National Taiwan University Hospital and National Taiwan University College of Medicine  Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huey\u2010Ling","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics National Taiwan University Hospital and National Taiwan University College of Medicine  Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ming","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Medical Research Center for Medical Genetics, Changhua Christian Hospital  Changhua Taiwan"},{"name":"Department of Genomic Medicine Center for Medical Genetics, Changhua Christian Hospital  Changhua Taiwan"},{"name":"Department of Obstetrics and Gynecology Changhua Christian Hospital  Changhua Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi\u2010Ning","family":"Su","sequence":"additional","affiliation":[{"name":"Department of Research and Development Sofiva Genomics Co., Ltd.  Taipei Taiwan"},{"name":"Department of Gynecology and Maternity Dianthus Maternal Fetal Medicine Clinic  Taipei Taiwan"},{"name":"Department of Obstetrics and Gynecology School of Medicine, Taipei Medical University  Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yiin\u2010Jeng","family":"Jong","sequence":"additional","affiliation":[{"name":"Genetics Generation Advancement Corp. (GGA Corp.)  Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shih\u2010Yao","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics National Taiwan University Hospital and National Taiwan University College of Medicine  Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen\u2010Yu","family":"Tsai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics National Taiwan University Hospital and National Taiwan University College of Medicine  Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ni\u2010Chung","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics National Taiwan University Hospital and National Taiwan University College of Medicine  Taipei Taiwan"},{"name":"Department of Medical Genetics National Taiwan University Hospital  Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,6,24]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)63008-8"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAT.0b013e3283559c94"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejca.2011.05.022"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2017.166"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPH.0b013e318239f4f6"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1103"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/humupd\/dmh060"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1159\/000079823"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.3109\/15513818809042976"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPH.0b013e3182a0627f"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00209482"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35651"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.033571"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36045"},{"key":"e_1_2_7_16_1","unstructured":"Kelly D. R. Buntain W. L. &Dearth J. C.(1984).Pancreatic adenocarcinoma and hepatoblastoma in a child with probable Beckwith\u2010Wiedemann syndrome. Paper presented at the XVth International Congress of the International Academy of Pathology Miami Beach Florida."},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)62580-1"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00439255"},{"issue":"3","key":"e_1_2_7_19_1","first-page":"152","article-title":"Serum alpha\u2010fetoprotein in normal Chinese infants","volume":"29","author":"Lee P. I.","year":"1988","journal-title":"Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.2350\/11-03-0999-OA.1"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37801"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1080\/15592294.2016.1264561"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2005.05.025"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2016.05.038"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2017.06.024"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.575"},{"issue":"1","key":"e_1_2_7_27_1","first-page":"56","article-title":"Pancreoblastoma in a neonate associated with Beckwith\u2010Wiedemann syndrome","volume":"41","author":"Potts S. R.","year":"1986","journal-title":"Zeitschrift f\u00fcr Kinderchirurgie"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.2350\/07-12-0401.1"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/del462"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPH.0b013e3181dccd1e"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37959"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.61276","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61276","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T20:51:58Z","timestamp":1694292718000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61276"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,6,24]]},"references-count":30,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2019,9]]}},"alternative-id":["10.1002\/ajmg.a.61276"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61276","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,6,24]]},"assertion":[{"value":"2018-12-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-06-11","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-06-24","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}