Hepatocellular Carcinoma Arising in an HNF-1α–Mutated Adenoma in a 23-Year-Old Woman with Maturity-Onset Diabetes of the Young: A Case Report

Ashley E. Stueck; Zhenhong Qu; Mary Ann Y. Huang; Genís Campreciós; Linda D. Ferrell; Swan N. Thung

doi:10.1055/s-0035-1567827

Seminars in Liver Disease, Inhaltsverzeichnis

Semin Liver Dis 2015; 35(04): 444-449
DOI: 10.1055/s-0035-1567827

Diagnostic Problems in Hepatology

Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Hepatocellular Carcinoma Arising in an HNF-1α–Mutated Adenoma in a 23-Year-Old Woman with Maturity-Onset Diabetes of the Young: A Case Report

Authors

Ashley E. Stueck

¹The Lillian and Henry M. Stratton–Hans Popper Department of Pathology, Icahn School of Medicine at Mount Sinai, New York, New York
Zhenhong Qu

²Department of Pathology, Beaumont Health System, Royal Oak, Michigan
Mary Ann Y. Huang

³Medical Director of Transplant Hepatology, William Beaumont School of Medicine, Royal Oak, Michigan
Genís Campreciós

⁴Division of Liver Diseases, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, New York
Linda D. Ferrell

⁵Department of Pathology, University of California, San Francisco, San Francisco, California
Swan N. Thung

¹The Lillian and Henry M. Stratton–Hans Popper Department of Pathology, Icahn School of Medicine at Mount Sinai, New York, New York

Abstract

Hepatocyte nuclear factor-1α mutated hepatocellular adenomas (H-HCA) are thought to have no to minimal malignant potential. This report describes a 23-year-old woman with maturity-onset diabetes of the young who developed a 12.5-cm hepatic mass with a radiographically and pathologically distinct 3.0-cm region. Histologically and immunohistochemically, the bulk of the mass was an H-HCA with extensive pseudoglandular formation and only focal steatosis. The 3.0-cm nodule showed small cell change, thickened hepatocyte plates, pleomorphic and hyperchromatic nuclei, reticulin loss, and stromal and vascular invasion, diagnostic of hepatocellular carcinoma (HCC). Immunohistochemically, increased expression of glutamine synthetase in tumor cells and CD34 expression in sinusoidal endothelial cells were seen in the HCC component. Nuclear expression of β-catenin, and exon 3 of CTNNB1 and TERT promoter mutations were absent in this case. Thus, we report a HCC arising in an H-HCA; although cases appear exceedingly rare, they reinforce the potential of H-HCA for malignant transformation.

Keywords

hepatocellular carcinoma - hepatocellular adenoma - HNF-1α - L-FABP - maturity-onset diabetes of the young

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