Fibrolamellar hepatocellular carcinoma: Case report of a rare tumor and a brief review of literature

Fibrolamellar hepatocellular carcinoma (FL-HCC) is a rare primary liver malignancy that typically arises in young adults without underlying cirrhosis or other established hepatic risk factors. We present the case of a 24-year-old male with a four-month history of progressive right upper quadrant abdominal pain, unintentional weight loss, and early satiety. Laboratory evaluation demonstrated mildly elevated liver transaminases and a markedly elevated serum vitamin B12 level of 3,240 pg/mL. Alpha-fetoprotein (AFP) levels were within normal limits.

Cross-sectional imaging revealed a 12 cm hypervascular mass within the left hepatic lobe, with a central fibrotic scar and areas of calcification. Core needle biopsy followed by molecular analysis confirmed the diagnosis of fibrolamellar carcinoma through identification of the pathognomonic DNAJB1–PRKACA gene fusion. The patient underwent an extended left hepatectomy (R0 resection) and achieved a disease-free interval of 20 months. Twenty-six months after the initial diagnosis, routine surveillance imaging detected metastatic recurrence involving the lungs and L3 vertebral body. The patient was managed with a multidisciplinary approach that included pulmonary metastasectomy, platinum-based chemotherapy, and participation in a clinical trial evaluating a PRKACA inhibitor.

This case underscores the importance of vigilant long-term surveillance in patients with FL-HCC and highlights the emerging role of targeted molecular therapies in addressing recurrent diseases.