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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

Ashley E. Stueck
1   The Lillian and Henry M. Stratton–Hans Popper Department of Pathology, Icahn School of Medicine at Mount Sinai, New York, New York
,
Zhenhong Qu
2   Department of Pathology, Beaumont Health System, Royal Oak, Michigan
,
Mary Ann Y. Huang
3   Medical Director of Transplant Hepatology, William Beaumont School of Medicine, Royal Oak, Michigan
,
Genís Campreciós
4   Division of Liver Diseases, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, New York
,
Linda D. Ferrell
5   Department of Pathology, University of California, San Francisco, San Francisco, California
,
Swan N. Thung
1   The Lillian and Henry M. Stratton–Hans Popper Department of Pathology, Icahn School of Medicine at Mount Sinai, New York, New York
› Author Affiliations
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Publication History

Publication Date:
16 December 2015 (online)

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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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