DNAJB1-PRKACA-positive metastatic fibrolamellar carcinoma with unknown primary in a pediatric patient.
(2020) Pediatric Blood & Cancer — Vol. 67, n° 2, p. e28060 [1-4] (2020)
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- Authors
Balbeur, Samuel 
Boulanger, Cécile
- 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.
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Citations
Balbeur, S., Dumortier, A., Mergen, J., Libbrecht, L., Torbenson, M., Boulanger, C., de Ville de Goyet, M., Van Damme, A., & Brichard, B. (2020). DNAJB1-PRKACA-positive metastatic fibrolamellar carcinoma with unknown primary in a pediatric patient. Pediatric Blood & Cancer, 67(2), e28060 [1-4]. https://doi.org/10.1002/pbc.28060 (Original work published 2020)