Natural history of liver adenomatosis: A long-term observational study

作者：Louise Barbier, Jean‐Charles Nault, Fanny Dujardin, B. Scotto, M. da Rocha Besson, A. De Muret, Pascal Bourlier, Jessica Zucman‐Rossi, Ephrem Salamé, Yannick Bacq · 发表于：Journal of Hepatology · 年份：2019 · DOI：10.1016/j.jhep.2019.08.004 · 被引用次数：43 · 研究领域：Hepatocellular Carcinoma Treatment and Prognosis、Liver Disease Diagnosis and Treatment、Cholangiocarcinoma and Gallbladder Cancer Studies

BACKGROUND & AIMS: Liver adenomatosis (LA) is characterized by the presence of at least 10 hepatocellular adenomas (HCAs), but the natural history of this rare liver disorder remains unclear. Thus, we aimed to reappraise the natural history and the risk of complications in a cohort of patients with at least 10 HCAs. METHODS: We analyzed the natural history of 40 patients with LA, excluding glycogen storage disorders, in a monocentric cohort. Pathological examination was performed, with immunostaining and molecular biology carried out on surgical specimens or liver biopsies. RESULTS: Forty patients (36 female) were included with a median follow-up of 10.6 (1.9-26.1) years. Six (15%) patients had familial LA, all with germline HNF1A mutations. Median age at diagnosis was 39 (9-55) years. Thirty-three (94%) women had a history of oral contraception, and 29 (81%) women had a pregnancy before LA diagnosis. Overall, thirty-seven (93%) patients underwent surgery at diagnosis. Classification of HCAs showed 46% of patients with HNF1A-mutated HCA, 31% with inflammatory HCA, 3% with sonic hedgehog HCA, 8% with unclassified HCA. Only 15% of the patients demonstrated a "mixed LA" with different HCA subtypes. Hepatic complications were identified in 7 patients: 1 patient (3%) died from recurrent hepatocellular carcinoma after liver transplantation; 6 (15%) had hemorrhages, of which 5 occurred at diagnosis, with 1 fatal case during pregnancy, and 2 occurred in male patients with familial LA...