Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO, USA.
Department of Pathology & Immunology, Washington University in St. Louis School of Medicine, St. Louis, MO, USA.
Pediatr Dev Pathol. 2023 Mar-Apr;26(2):153-160. doi: 10.1177/10935266221146378. Epub 2023 Feb 6.
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 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.
硬化性上皮样纤维肉瘤 (SEF) 是一种罕见但侵袭性的肉瘤。我们报告了首例发生于儿科患者的肝脏 SEF，这也是文献中的第二例。一名 17 岁既往健康的女性因肝脏肿块就诊，最大径为 13.7cm，伴有肝酶和癌抗原 19-9 轻度升高。经皮肝穿刺活检显示肝实质内有多个核心，主要被致密玻璃样纤维化组织和小至中等大小的上皮样细胞区域所取代，这些细胞胞质呈嗜酸性和透明状。免疫组织化学 (IHC) 显示 MUC4 弥漫强细胞质染色，提示硬化性上皮样纤维肉瘤 (SEF)/低度纤维黏液样肉瘤 (LGFMS) 的初步诊断。肝移植标本显示边界清楚的结节状肿块，质地坚硬，灰白色切面，与经皮肝穿刺活检所见的组织病理学相似，无 LGFMS 的明确证据。测序小组发现了 基因融合，证实了 SEF 的诊断。术后 3 个月，癌抗原 19-9 恢复正常；移植后 3 和 6 个月的随访影像学检查未显示疾病复发的迹象。
