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

Pediatr Blood Cancer. 2020 Feb;67(2):e28060. doi: 10.1002/pbc.28060. Epub 2019 Nov 17.


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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use
  • Carcinoma, Hepatocellular / drug therapy
  • Carcinoma, Hepatocellular / genetics
  • Carcinoma, Hepatocellular / secondary*
  • Cyclic AMP-Dependent Protein Kinase Catalytic Subunits / genetics*
  • Female
  • Gene Rearrangement
  • HSP40 Heat-Shock Proteins / genetics*
  • Humans
  • Neoplasms, Unknown Primary / drug therapy
  • Neoplasms, Unknown Primary / genetics
  • Neoplasms, Unknown Primary / pathology*
  • Peritoneal Neoplasms / drug therapy
  • Peritoneal Neoplasms / genetics
  • Peritoneal Neoplasms / secondary*
  • Prognosis


  • DNAJB1 protein, human
  • HSP40 Heat-Shock Proteins
  • Cyclic AMP-Dependent Protein Kinase Catalytic Subunits
  • PRKACA protein, human

Supplementary concepts

  • Fibrolamellar hepatocellular carcinoma