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DNAJB1‐PRKACA–positive metastatic fibrolamellar carcinoma with unknown primary in a pediatric patient
Author(s) -
Balbeur Samuel,
Dumortier Adeline,
Mergen Julien,
Libbrecht Louis,
Torbenson Michael,
Boulanger Cecile,
Ville de Goyet Maelle,
Van Damme An,
Brichard Bénédicte
Publication year - 2020
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.28060
Subject(s) - medicine , pathology , immunohistochemistry , hepatocellular carcinoma , carcinoma , fusion gene , metastatic carcinoma , gene , cancer research , biology , biochemistry
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.