Hepatocellular adenoma (HCA) is a rare benign liver tumor characterized by the monoclonal proliferation of hepatocytes. The etiology of HCAs involves hormonal influences and genetic predispositions. The main complication of HCA is bleeding with intraperitoneal hemorrhage. Another potential complication is malignant transformation. Biallelic inactivation of HNF1A has been identified in familial HCA. HNF1A encodes a homeodomain containing transcription factor involved in the regulation of a large number of genes expressed in the liver involved in hepatocyte differentiation and liver development. Heterozygous germline mutations in HNF1A have been linked to the occurrence of MODY3 [DS:H00410].
Bacq Y, Jacquemin E, Balabaud C, Jeannot E, Scotto B, Branchereau S, Laurent C, Bourlier P, Pariente D, de Muret A, Fabre M, Bioulac-Sage P, Zucman-Rossi J
タイトル
Familial liver adenomatosis associated with hepatocyte nuclear factor 1alpha inactivation.
