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

Samuel Balbeur, Adeline Dumortier, Julien Mergen, Louis Libbrecht, Michael Torbenson, Cecile Boulanger, Maelle de Ville de Goyet, An Van Damme, Bénédicte Brichard

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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.

Original languageEnglish (US)
Article numbere28060
JournalPediatric Blood and Cancer
DOIs
StateAccepted/In press - Jan 1 2019

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Keywords

  • cancer genetics
  • liver
  • pediatric hematology/oncology
  • tumors

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

Cite this

Balbeur, S., Dumortier, A., Mergen, J., Libbrecht, L., Torbenson, M., Boulanger, C., de Ville de Goyet, M., Van Damme, A., & Brichard, B. (Accepted/In press). DNAJB1-PRKACA–positive metastatic fibrolamellar carcinoma with unknown primary in a pediatric patient. Pediatric Blood and Cancer, [e28060]. https://doi.org/10.1002/pbc.28060