TY - JOUR
T1 - Sclerosing Epithelioid Fibrosarcoma of the Liver in a Pediatric Patient
AU - Armstrong, Amy
AU - Boulos, Fouad
AU - Kulkarni, Sakil
AU - Stoll, Janis
AU - Doyle, Maria Bernadette Majella
AU - Khan, Adeel
AU - He, Mai
N1 - Publisher Copyright:
© 2023, Society for Pediatric Pathology All rights reserved.
PY - 2023/3/1
Y1 - 2023/3/1
N2 - 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.
AB - 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.
KW - EWSR1 :: CREB3L1 gene fusion
KW - MUC4
KW - low-grade fibromyxoid sarcoma
KW - pathology
KW - pediatric
KW - sclerosing epithelioid fibrosarcoma
UR - http://www.scopus.com/inward/record.url?scp=85147671183&partnerID=8YFLogxK
U2 - 10.1177/10935266221146378
DO - 10.1177/10935266221146378
M3 - Article
C2 - 36748108
AN - SCOPUS:85147671183
SN - 1093-5266
VL - 26
SP - 153
EP - 160
JO - Pediatric and Developmental Pathology
JF - Pediatric and Developmental Pathology
IS - 2
ER -