title: Hepatocellular adenoma displaying a HNF1alpha inactivation in a patient with familial adenomatous polyposis coli.
abstract: Patients with familial adenomatous polyposis coli (FAP) may rarely develop hepatocellular adenoma. Here we report the case of a 37-year-old FAP woman presenting a hepatocellular adenoma after oestroprogestative oral contraception use. In this steatotic adenoma, we identified an inactivating biallelic mutation of HNF1alpha. In addition to the known germline APC mutation Q1062fs, we did not find an inactivation of the second APC allele nor an activation of the beta-catenin target genes GLUL and GPR49. Our findings contrast with two hepatocellular adenoma cases related to FAP, for which a biallelic inactivation of the APC gene was previously described. Altogether, these results suggest that benign hepatocellular carcinogenesis may be dependent on or independent of the Wnt/beta-catenin pathway in patients with FAP.
authors.affiliation: Inserm, U674, IUH, Université Paris 7, Paris, France.
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Jeannot
authors.forename: Dominique
authors.initials: D
authors.lastname: Wendum
authors.forename: François
authors.initials: F
authors.lastname: Paye
authors.forename: Najat
authors.initials: N
authors.lastname: Mourra
authors.forename: Claudia
authors.initials: C
authors.lastname: de Toma
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Fléjou
authors.forename: Jessica
authors.initials: J
authors.lastname: Zucman-Rossi
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000150:complications* / Q000235:genetics; D000328:Adult; D000483:Alleles; D006528:Carcinoma, Hepatocellular / Q000150:complications / Q000235:genetics* / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D020868:Gene Silencing; D017491:Genes, APC; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D051538:Hepatocyte Nuclear Factor 1-alpha / Q000235:genetics*; D006801:Humans; D007150:Immunohistochemistry; D008113:Liver Neoplasms / Q000150:complications / Q000235:genetics* / Q000473:pathology; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D051538:Hepatocyte Nuclear Factor 1-alpha