{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"submitter":["Aguiar JR"],"pubmed_abstract":["<h4>Introduction</h4>Wilson's disease is a rare autosomal recessive inherited disorder of human copper metabolism. The spectrum of clinical manifestations of liver disease ranges from asymptomatic to cirrhosis and acute liver failure. Unlike the increased frequency of hepatobiliary tumours in other chronic liver diseases, the incidence of these tumours in Wilson's disease is an uncommon event, even in cirrhotic patients.<h4>Case presentation</h4>We describe two clinical cases of cirrhotic patients with Wilson disease diagnosed with cholangiocarcinoma.<h4>Discussion</h4>The occurrence of hepatobiliary malignancies in Wilson's disease is rare, even in cirrhotic patients. The exact reasons for this low prevalence are unclear, with some conflicting data. Copper's role in chromatin stabilizatio"],"journal":["GE Portuguese journal of gastroenterology"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12503872"],"repository":["biostudies-literature"],"pubmed_title":["Intrahepatic Cholangiocarcinoma in Wilson's Disease: 2 Case Reports."],"pmcid":["PMC12503872"],"pubmed_authors":["Miranda HP","Pereira C","Aguiar JR"],"additional_accession":[]},"is_claimable":false,"name":"Intrahepatic Cholangiocarcinoma in Wilson's Disease: 2 Case Reports.","description":"<h4>Introduction</h4>Wilson's disease is a rare autosomal recessive inherited disorder of human copper metabolism. The spectrum of clinical manifestations of liver disease ranges from asymptomatic to cirrhosis and acute liver failure. Unlike the increased frequency of hepatobiliary tumours in other chronic liver diseases, the incidence of these tumours in Wilson's disease is an uncommon event, even in cirrhotic patients.<h4>Case presentation</h4>We describe two clinical cases of cirrhotic patients with Wilson disease diagnosed with cholangiocarcinoma.<h4>Discussion</h4>The occurrence of hepatobiliary malignancies in Wilson's disease is rare, even in cirrhotic patients. The exact reasons for this low prevalence are unclear, with some conflicting data. Copper's role in chromatin stabilizatio","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Sep","modification":"2026-06-04T07:52:29.958Z","creation":"2026-05-07T03:08:25.294Z"},"accession":"S-EPMC12503872","cross_references":{"pubmed":["41064650"],"doi":["10.1159/000548202"]}}