Sclerosing Epithelioid Fibrosarcoma

Surg Pathol Clin. 2024 Mar;17(1):119-139. doi: 10.1016/j.path.2023.06.009. Epub 2023 Aug 5.

Abstract

Sclerosing epithelioid fibrosarcoma (SEF) is a distinctive sarcoma that may arise in nearly any soft tissue site or bone. While there has been past controversy as to whether it is related to low-grade fibromyxoid sarcoma (LGFMS), it has been shown to behave far more aggressively than LGFMS. SEF has a propensity to metastasize to the lungs and bone and arise within the abdominal cavity. Histologically, it is characterized by uniform nuclei embedded in a densely collagenous stroma simulating osteoid. By immunohistochemistry, it is often strongly positive for MUC4. The majority (75%) have EWSR1 gene rearrangement, most commonly with CREB3L1 as a fusion partner, although a variety of FUS/EWSR1 and CREB3L1/CREB3L2/CREB3L3 fusions have been described in addition to others. SEF is currently recalcitrant to nearly all chemotherapy and radiation therapy.

Keywords: CREB3L1; CREB3L2; EWSR1; FUS; KMT2A; Low-grade fibromyxoid sarcoma; MUC4; Sclerosing epithelioid fibrosarcoma.

Publication types

  • Review

MeSH terms

  • Biomarkers, Tumor / genetics
  • Fibrosarcoma* / diagnosis
  • Fibrosarcoma* / genetics
  • Fibrosarcoma* / pathology
  • Humans
  • Sarcoma*
  • Soft Tissue Neoplasms* / diagnosis
  • Soft Tissue Neoplasms* / genetics
  • Soft Tissue Neoplasms* / pathology

Substances

  • Biomarkers, Tumor