[由于HNF1α种系突变导致肝细胞腺瘤病患者中具有β-连环蛋白突变的炎性腺瘤中的肝细胞癌]
[Hepatocellular carcinoma in an inflammatory adenoma with β-catenin mutation in a patient with hepatocellular adenomatosis due to germline mutation in HNF1α].
作者信息
Ridder Dirk Andreas, Duret Diane, Wörns Marcus-Alexander, Schotten Sebastian, Heinrich Stefan, Kloth Michael, Springer Erik, Roth Wilfried, Straub Beate Katharina
机构信息
Institut für Pathologie, Universitätsmedizin Mainz.
I. Medizinische Klinik und Poliklinik/Cirrhose Centrum Mainz (CCM), Universitätsmedizin Mainz.
出版信息
Z Gastroenterol. 2019 Jan;57(1):46-51. doi: 10.1055/a-0821-7154. Epub 2019 Jan 14.
Hepatocyte nuclear factor 1 α (HNF1α) mutations cause maturity-onset diabetes of the young (MODY) type 3 and are associated with hepatocellular adenomatosis. Malignant transformation of HNF1α-mutated hepatocellular adenomas is rare. We report a case of a 28-year-old man with HNF1α-inactivated adenomatosis who developed an inflammatory adenoma with β catenin mutation with malignant transformation into a well-differentiated hepatocellular carcinoma (HCC).
肝细胞核因子1α（HNF1α）突变可导致青年发病的成年型糖尿病（MODY）3型，并与肝细胞腺瘤病相关。HNF1α突变的肝细胞腺瘤发生恶性转化较为罕见。我们报告一例28岁男性，患有HNF1α失活的腺瘤病，其炎性腺瘤发生β连环蛋白突变，并恶性转化为高分化肝细胞癌（HCC）。
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