Sclerosing epithelioid fibrosarcoma (SEF) is a rare but aggressive sarcoma. We report the first case of hepatic SEF in pediatric patient, which is also the second case in literature. A 17-year-old previously healthy female presented with a liver mass measuring 13.7 cm in greatest dimension and mild elevation of liver enzymes and cancer antigen 19-9. Needle biopsy revealed multiple cores of liver parenchyma mostly replaced by densely hyalinized fibrotic tissue and areas of small-to-medium sized epithelioid cells with eosinophilic and clear cytoplasm. Immunohistochemistry (IHC) demonstrated diffuse strong cytoplasmic staining of MUC4, suggesting a working diagnosis of sclerosing epithelioid fibrosarcoma (SEF)/low-grade fibromyxoid sarcoma (LGFMS). Liver explant demonstrated a well-circumscribed, nodular mass with firm, gray-white cut surface, and similar histopathology as seen in needle biopsy with no convincing evidence suggesting LGFMS. Sequencing panel revealed EWSR1::CREB3L1 gene fusion and confirmed the diagnosis of SEF. Post-operative cancer antigen 19-9 normalized 3 months after transplant; follow-up 3 and 6 months post-transplant imaging at that time showed no concern for disease recurrence.
Keywords: EWSR1 :: CREB3L1 gene fusion; MUC4; low-grade fibromyxoid sarcoma; pathology; pediatric; sclerosing epithelioid fibrosarcoma.