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Pigmented well-differentiated hepatocellular neoplasm with β-catenin mutation

Hepatobiliary & Pancreatic Diseases International 2015年第6期14卷 660-664页

作者： Lara Neves Souza Rodrigo Bronze de Martino Richard Thompson sandra strautnieks Nigel D Heaton Alberto Quaglia Institute of Liver Studies King's College Hospital Department of Gastroenterology Discipline of Liver and Gastrointestinal TransplantationHospital das ClínicasUniversity of S?o Paulo

ABSTRACT： According to the most recent WHO classification of hepatocellular adenomas, a small percentage of inflammatory hepatocellular adenomas presents with mutation in the β-catenin gene and are at higher risk of malignant transformation. It has been recognized that adenoma-like hepatocellular neoplasms with focal atypia, or in unusual clinical context present with similar cytogenetic and immunohistochemistry characteristics to well-differentiated hepatocellular carcino- mas.

关键词： hepatocellular adenoma hepatocellular carcinoma β-catenin glutamine synthetase diethylstilbestrol

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Progressive familial intrahepatic cholestasis—farnesoid X receptor deficiency due to NR1H4 mutation:A case report

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World Journal of Clinical Cases 2021年第15期9卷 3631-3636页

作者： Piotr Czubkowski Richard J Thompson Irena Jankowska A S Knisely Milton Finegold Pamela Parsons Joanna Cielecka-Kuszyk sandra strautnieks Joanna Pawłowska Laura N Bull Department of Gastroenterology HepatologyNutritional Disorders and PediatricsThe Children’s Memorial Health InstituteWarsaw 04-730Poland Institute of Liver Studies King's College London HospitalLondon SE59RSUnited Kingdom Institut für Pathologie Medizinische Universität GrazGraz 8010Austria Department of Pathology and Immunology Baylor College of MedicineHoustonTX 77030United States Texas Children’s Hospital HoustonTX 77030United States Department of Pathology The Children’s Memorial Health InstituteWarsaw 04-730Poland Department of Medicine and Institute for Human Genetics UCSF Liver Center LaboratoryUniversity of California San FranciscoSan FranciscoCA 94143United States

BACKGROUND Functioning farnesoid X receptor(FXR;encoded by NR1H4)is key to normal bile acid homeostasis.Biallelic mutations in NR1H4 are reported in a few children with intrahepatic cholestasis.We describe a boy with progressive familial intrahepatic cholestasis and homozygous mutation in NR1H4.CASE SUMMARY A boy had severe neonatal cholestasis with moderate hypercholanemia and persistently elevated alpha-fetoprotein.Despite medical treatment,coagulopathy was uncontrollable,prompting liver transplantation at age 8 mo with incidental splenectomy.The patient experienced catch-up growth with good liver function and did not develop allograft steatosis.However,1 year after transplant,he died from an acute infection,considered secondary to immunosuppression and asplenia.A homozygous protein-truncating mutation,c.547C>T,p.(Arg183Ter),was subsequently identified in NR1H4,and both parents were shown to be heterozygous carriers.Absence of FXR and of bile salt export pump expression was confirmed by immunostaining of explanted liver.CONCLUSION Severe cholestasis with persistently high alpha-fetoprotein and modest elevation of serum bile acid levels may suggest FXR deficiency.Some patients with FXR deficiency may not develop allograft steatosis and may respond well to liver transplantation.

关键词： Neonatal cholestasis Progressive familial intrahepatic cholestasis Bile salt export pump Liver transplantation Alpha-fetoprotein Case report

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