{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,3]],"date-time":"2026-04-03T03:21:48Z","timestamp":1775186508099,"version":"3.50.1"},"reference-count":28,"publisher":"Elsevier BV","issue":"11","license":[{"start":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:00:00Z","timestamp":1761955200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:00:00Z","timestamp":1761955200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/100021465","name":"Department of Pathology and Laboratory Medicine, College of Medicine, Medical University of South Carolina","doi-asserted-by":"publisher","award":["IRB 21-4768"],"award-info":[{"award-number":["IRB 21-4768"]}],"id":[{"id":"10.13039\/100021465","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000871","name":"Mayo Clinic","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000871","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007048","name":"Mayo Clinic","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007048","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["mp.uscap.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Modern Pathology"],"published-print":{"date-parts":[[2025,11]]},"DOI":"10.1016\/j.modpat.2025.100880","type":"journal-article","created":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T15:33:56Z","timestamp":1756740836000},"page":"100880","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"title":["HNF1A-inactived Hepatocellular Adenomas in Fibropolycystic Kidney and Liver Disease Are Associated With Germline HNF1B Variant"],"prefix":"10.1016","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1867-4957","authenticated-orcid":false,"given":"Catherine E.","family":"Hagen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dipti M.","family":"Karamchandani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luisa","family":"Ricaurte","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nagaswaroop","family":"Nagaraj","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vivekananda","family":"Sarangi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher P.","family":"Hartley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chirag","family":"Patel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcela","family":"Salomao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rish","family":"Pai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rondell P.","family":"Graham","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.modpat.2025.100880_bib1","doi-asserted-by":"crossref","first-page":"740","DOI":"10.1002\/hep.21743","article-title":"Hepatocellular adenoma subtype classification using molecular markers and immunohistochemistry","volume":"46","author":"Bioulac-Sage","year":"2007","journal-title":"Hepatology"},{"key":"10.1016\/j.modpat.2025.100880_bib2","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1055\/s-0031-1272837","article-title":"Revisiting the pathology of resected benign hepatocellular nodules using new immunohistochemical markers","volume":"31","author":"Bioulac-Sage","year":"2011","journal-title":"Semin Liver Dis"},{"key":"10.1016\/j.modpat.2025.100880_bib3","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1053\/j.semdp.2016.12.007","article-title":"Hepatocellular adenoma: classification, variants and clinical relevance","volume":"34","author":"Bioulac-Sage","year":"2017","journal-title":"Semin Diagn Pathol"},{"key":"10.1016\/j.modpat.2025.100880_bib4","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1002\/ajmg.c.30225","article-title":"Liver and kidney disease in ciliopathies","volume":"151C","author":"Gunay-Aygun","year":"2009","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"10.1016\/j.modpat.2025.100880_bib5","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1136\/jmg.40.5.311","article-title":"Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes","volume":"40","author":"Johnson","year":"2003","journal-title":"J Med Genet"},{"key":"10.1016\/j.modpat.2025.100880_bib6","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1146\/annurev-pathol-042320-121247","article-title":"Polycystic liver disease: advances in understanding and treatment","volume":"17","author":"Masyuk","year":"2022","journal-title":"Annu Rev Pathol"},{"key":"10.1016\/j.modpat.2025.100880_bib7","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1016\/j.humpath.2022.06.022","article-title":"An update on ductal plate malformations and fibropolycystic diseases of the liver","volume":"132","author":"Mirza","year":"2023","journal-title":"Hum Pathol"},{"key":"10.1016\/j.modpat.2025.100880_bib8","doi-asserted-by":"crossref","first-page":"154","DOI":"10.4132\/jptm.2020.11.12","article-title":"Multiple hepatocyte nuclear factor 1A (HNF1A)-inactivated hepatocellular adenomas arising in a background of congenital hepatic fibrosis","volume":"55","author":"Lee","year":"2021","journal-title":"J Pathol Transl Med"},{"key":"10.1016\/j.modpat.2025.100880_bib9","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1053\/j.gastro.2016.11.042","article-title":"Molecular classification of hepatocellular adenoma associates with risk factors, bleeding, and malignant transformation","volume":"152","author":"Nault","year":"2017","journal-title":"Gastroenterology"},{"key":"10.1016\/j.modpat.2025.100880_bib10","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1093\/bioinformatics\/btr612","article-title":"TREAT: a bioinformatics tool for variant annotations and visualizations in targeted and exome sequencing data","volume":"28","author":"Asmann","year":"2012","journal-title":"Bioinformatics"},{"key":"10.1016\/j.modpat.2025.100880_bib11","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"McKenna","year":"2010","journal-title":"Genome Res"},{"key":"10.1016\/j.modpat.2025.100880_bib12","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1038\/nbt.2514","article-title":"Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples","volume":"31","author":"Cibulskis","year":"2013","journal-title":"Nat Biotechnol"},{"key":"10.1016\/j.modpat.2025.100880_bib13","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1038\/s41592-018-0051-x","article-title":"Strelka2: fast and accurate calling of germline and somatic variants","volume":"15","author":"Kim","year":"2018","journal-title":"Nat Methods"},{"key":"10.1016\/j.modpat.2025.100880_bib14","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1186\/s13059-016-0974-4","article-title":"The Ensembl variant effect predictor","volume":"17","author":"McLaren","year":"2016","journal-title":"Genome Biol"},{"key":"10.1016\/j.modpat.2025.100880_bib17","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1038\/ki.2011.225","article-title":"Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood","volume":"80","author":"Faguer","year":"2011","journal-title":"Kidney Int"},{"key":"10.1016\/j.modpat.2025.100880_bib18","doi-asserted-by":"crossref","first-page":"307","DOI":"10.3390\/cells12020307","article-title":"The landscape of HNF1B deficiency: a syndrome not yet fully explored","volume":"12","author":"Gambella","year":"2023","journal-title":"Cells"},{"key":"10.1016\/j.modpat.2025.100880_bib19","doi-asserted-by":"crossref","first-page":"1079","DOI":"10.2215\/CJN.06810909","article-title":"Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases","volume":"5","author":"Heidet","year":"2010","journal-title":"Clin J Am Soc Nephrol"},{"key":"10.1016\/j.modpat.2025.100880_bib20","doi-asserted-by":"crossref","first-page":"2075","DOI":"10.1210\/jc.2017-00061","article-title":"Biliary anomalies in patients with HNF1B diabetes","volume":"102","author":"Kettunen","year":"2017","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.modpat.2025.100880_bib21","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1097\/01.pap.0000201831.77472.d3","article-title":"Renal cystic diseases: a review","volume":"13","author":"Bisceglia","year":"2006","journal-title":"Adv Anat Pathol"},{"key":"10.1016\/j.modpat.2025.100880_bib22","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1007\/BF00857576","article-title":"Glomerulocystic kidney disease? Nosological considerations","volume":"7","author":"Bernstein","year":"1993","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.modpat.2025.100880_bib23","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.biocel.2009.07.020","article-title":"Biliary differentiation and bile duct morphogenesis in development and disease","volume":"43","author":"Raynaud","year":"2011","journal-title":"Int J Biochem Cell Biol"},{"key":"10.1016\/j.modpat.2025.100880_bib24","doi-asserted-by":"crossref","first-page":"686","DOI":"10.1016\/S0168-8278(03)00409-4","article-title":"Hepatic artery malformations associated with a primary defect in intrahepatic bile duct development","volume":"39","author":"Clotman","year":"2003","journal-title":"J Hepatol"},{"key":"10.1016\/j.modpat.2025.100880_bib25","doi-asserted-by":"crossref","first-page":"1829","DOI":"10.1242\/dev.129.8.1829","article-title":"Bile system morphogenesis defects and liver dysfunction upon targeted deletion of HNF1\u03b2","volume":"129","author":"Coffinier","year":"2002","journal-title":"Development"},{"key":"10.1016\/j.modpat.2025.100880_bib26","doi-asserted-by":"crossref","first-page":"e85","DOI":"10.1097\/MPG.0000000000002015","article-title":"Hepatocarcinoma and cholestasis associated to germline hemizygous deletion of gene HNF1B","volume":"68","author":"de Leusse","year":"2019","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"10.1016\/j.modpat.2025.100880_bib27","doi-asserted-by":"crossref","DOI":"10.1136\/bmjgast-2022-001013","article-title":"New case of syncytial giant-cell variant of hepatocellular carcinoma in a pediatric patient with HNF1B deficiency: does it fit with the syndrome?","volume":"9","author":"Pinon","year":"2022","journal-title":"BMJ Open Gastroenterol"},{"key":"10.1016\/j.modpat.2025.100880_bib28","doi-asserted-by":"crossref","first-page":"1369","DOI":"10.1210\/jc.2003-031308","article-title":"Promoter-specific repression of hepatocyte nuclear factor (HNF)-1 beta and HNF-1 alpha transcriptional activity by an HNF-1 beta missense mutant associated with Type 5 maturity-onset diabetes of the young with hepatic and biliary manifestations","volume":"89","author":"Kitanaka","year":"2004","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.modpat.2025.100880_bib29","doi-asserted-by":"crossref","DOI":"10.3390\/ijms251910483","article-title":"Genomic and transcriptomic profile of HNF1A-mutated liver adenomas highlights molecular signature and potential therapeutic implications","volume":"25","author":"Faini","year":"2024","journal-title":"Int J Mol Sci"},{"key":"10.1016\/j.modpat.2025.100880_bib30","doi-asserted-by":"crossref","first-page":"1836","DOI":"10.2337\/db09-1819","article-title":"Spectrum of HNF1A somatic mutations in hepatocellular adenoma differs from that in patients with MODY3 and suggests genotoxic damage","volume":"59","author":"Jeannot","year":"2010","journal-title":"Diabetes"}],"container-title":["Modern Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0893395225001784?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0893395225001784?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,3,7]],"date-time":"2026-03-07T03:25:37Z","timestamp":1772853937000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0893395225001784"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11]]},"references-count":28,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2025,11]]}},"alternative-id":["S0893395225001784"],"URL":"https:\/\/doi.org\/10.1016\/j.modpat.2025.100880","relation":{},"ISSN":["0893-3952"],"issn-type":[{"value":"0893-3952","type":"print"}],"subject":[],"published":{"date-parts":[[2025,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"HNF1A-inactived Hepatocellular Adenomas in Fibropolycystic Kidney and Liver Disease Are Associated With Germline HNF1B Variant","name":"articletitle","label":"Article Title"},{"value":"Modern Pathology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.modpat.2025.100880","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 United States & Canadian Academy of Pathology. Published by Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"100880"}}