Clin Transplant Res.  2024 Sep;38(3):241-245. 10.4285/ctr.24.0016.

Hepatocellular carcinoma associated with progressive intrahepatic familial cholestasis type 2: a case report

• Pimentel JM
• Nobre S
• Oliveira RC
• Martins R
• Cipriano MA

• KMID: 2559815
• DOI: http://doi.org/10.4285/ctr.24.0016

Abstract

Progressive familial intrahepatic cholestasis type 2 (PFIC2) is an autosomal recessive disorder typically presenting in infancy with cholestasis and rapidly progressing to cirrhosis. PFIC has been associated with an elevated risk of hepatocellular carcinoma (HCC), a neoplasm that is uncommon in children. PFIC type 4 has the strongest link to this type of cancer, although a few cases have also been connected to PFIC2. Herein, we report the case of a 2-year-old boy who underwent liver transplantation due to PFIC2. Histological examination showed cirrhosis and four small HCCs. Over a 20-year period following the transplantation, there was no recurrence of the disease or HCC. Although rare, HCC development can occur in PFIC and may complicate the prognosis. Liver transplantation offers a potential cure for both the metabolic disease and the neoplasm.

Keyword

Progressive familial intrahepatic cholestasis; Liver transplantation; Hepatocellular carcinoma; Cirrhosis; Case report

Figure

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  Fig. 1 (A) Histological examination of the liver showing cirrhosis (H&E, ×40). (B) Histological examination of the liver showing cirrhosis (Masson’s trichrome, ×40). (C) Interface between the liver parenchyma and a hepatocellular carcinoma (H&E, ×20). (D) Hepatocellular carcinoma with a trabecular pattern (H&E, ×200).

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  Fig. 2 (A) Immunohistochemistry studies showing bile salt export pump expression (×200). (B) Immunohistochemistry studies showing weak multidrug resistance protein 3 expression (×400). (C) CK7 was expressed in periseptal hepatocytes (intermediate cell phenotype; ×100).

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