Sclerosing epithelioid fibrosarcoma: in-depth review of a genetically heterogeneous tumor

APMIS. 2021 Aug;129(8):455-460. doi: 10.1111/apm.13157. Epub 2021 Jun 25.

Abstract

First described in 1995 by Meis-Kindbloom et al. as a variant of fibrosarcoma simulating carcinoma, sclerosing epithelioid fibrosarcoma (SEF) is a malignant soft tissue sarcoma characterized by epithelioid cells in dense sclerotic stroma, frequent immunoreactivity for MUC4 and heterogeneous genetic profile with recurrent EWSR1 gene rearrangement. It typically affects middle-age adults with a predilection for the lower extremity. It is believed that SEF is closely related to low-grade fibromyxoid sarcoma (LGFMS), both tumors show overlapping features in morphology, immunophenotype, and molecular profile. In this review, we discuss the clinical, morphologic, and immunohistochemical features of SEF with particular emphasis on its molecular diversity and relation to LGFMS.

Keywords: EWSR1; MUC4; Sclerosing epithelioid fibrosarcoma; low-grade fibromyxoid sarcoma; soft tissue.

Publication types

  • Review

MeSH terms

  • Animals
  • Fibrosarcoma / genetics*
  • Fibrosarcoma / pathology
  • Gene Rearrangement
  • Humans
  • Mucin-4 / genetics
  • Soft Tissue Neoplasms / genetics*
  • Soft Tissue Neoplasms / pathology

Substances

  • MUC4 protein, human
  • Mucin-4