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Pediatr Blood Cancer. 2019 Nov 17:e28060. doi: 10.1002/pbc.28060. [Epub ahead of print]

DNAJB1-PRKACA-positive metastatic fibrolamellar carcinoma with unknown primary in a pediatric patient.

Author information

1
Department of Pediatric Hematology and Oncology, Cliniques Universitaires Saint-Luc, Brussels, Belgium.
2
Department of Pediatrics, Clinique Saint-Pierre, Belgium.
3
Department of Pathology, Cliniques Universitaires Saint-Luc, Brussels, Belgium.
4
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.

Abstract

Fibrolamellar carcinoma (FLC) is a rare variant of hepatocellular carcinoma, occurring in children and young adults without underlying liver disease. The diagnosis is based on morphological characteristics of the tumor, supplemented by immunohistochemistry and/or genetic testing. Recently, the presence of a characteristic DNAJB1-PRKACA fusion gene has been associated with FLC. Herein, we report a case of FLC presenting as peritoneal carcinomatosis in a 14-year-old female. Interestingly, no liver tumor was seen on imaging, and an alternative possibility is that the tumor arose outside the liver as a hepatoid carcinoma with fibrolamellar features.

KEYWORDS:

cancer genetics; liver; pediatric hematology/oncology; tumors

PMID:
31736218
DOI:
10.1002/pbc.28060

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