title: Mutations in bile salt export pump (ABCB11) in two children with progressive familial intrahepatic cholestasis and cholangiocarcinoma.
abstract: Fatal peripheral cholangiocarcinoma developed in 2 girls with progressive familial intrahepatic cholestasis, ABCB11 mutations, and absent bile salt export pump (BSEP) expression. BSEP deficiency may cause cholangiocarcinoma through bile-composition shifts or bile-acid damage within cells capable of hepatocytic/cholangiocytic differentiation. This observation suggests the need for hepatobiliary-malignancy surveillance and early consideration for liver transplantation.
authors: Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD 21287, USA. ascheima@jhmi.edu
authors: A O
authors: AO
authors: Scheimann
authors: S S
authors: SS
authors: Strautnieks
authors: A S
authors: AS
authors: Knisely
authors: J A
authors: JA
authors: Byrne
authors: R J
authors: RJ
authors: Thompson
authors: M J
authors: MJ
authors: Finegold
mesh_terms: D000074020:ATP Binding Cassette Transporter, Subfamily B, Member 11; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D001650:Bile Duct Neoplasms / Q000235:genetics*; D001653:Bile Ducts, Intrahepatic; D018281:Cholangiocarcinoma / Q000235:genetics*; D002780:Cholestasis, Intrahepatic / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D009154:Mutation
chemical_list: C093491:ABCB11 protein, human; D000074020:ATP Binding Cassette Transporter, Subfamily B, Member 11; D018528:ATP-Binding Cassette Transporters