Sclerosing epithelioid fibrosarcoma of bone: morphological, immunophenotypical, and molecular findings of 9 cases

KÖSEMEHMETOĞLU K., Ardic F., Kilpatrick S. E., AYDINGÖZ Ü., Sumathi V. P., Michal M.

VIRCHOWS ARCHIV, vol.478, no.4, pp.767-777, 2021 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 478 Issue: 4
  • Publication Date: 2021
  • Doi Number: 10.1007/s00428-020-02953-y
  • Journal Name: VIRCHOWS ARCHIV
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Agricultural & Environmental Science Database, BIOSIS, CAB Abstracts, CINAHL, EMBASE, MEDLINE
  • Page Numbers: pp.767-777
  • Keywords: Bone tumor, Bone neoplasm, Sarcoma, Radiology, MUC4, SATB2, EWSR1, FUS
  • Hacettepe University Affiliated: Yes


Primary sclerosing epithelioid fibrosarcoma (SEF) of bone is a rare and scarcely reported neoplasm. We document clinicopathological and molecular features of 9 additional cases. Five males and 4 females had a mean age of 39 years (14-71 years). Most tumors affected flat/irregular bones; only 3 cases involved a long bone. By radiology, it has characteristic radiographic features of a predominantly lytic expansile lesion with a sclerotic rim. Referring diagnoses were SEF (n= 2), low-grade osteosarcoma (n= 2), chondrosarcoma (n= 1), and chondromyxoid fibroma (n= 1). Histologically, five cases revealed classical morphology of SEF of soft tissue. Remaining cases were classified as hybrid SEF/low-grade fibromyxoid sarcoma, characterized by spindle or stellate cells, prominent stroma, and giant hyalinized areas. Various morphological deviations such as prominent vasculature (n= 3), osteoid-like material (n= 4), or parallel bone trabeculae (n= 2) were observed. Immunohistochemically, all cases showed diffuse and strong MUC4 expression. SATB2 was observed in 5/8 cases. Using FISH,EWSR1, and FUS rearrangements were detected in 4 cases and 1 case, respectively.EWSR1-CREB3L1fusion was identified in 1 additional case by next-generation sequencing. Recurrence and metastasis were observed in 1 case and 2 cases, respectively. All but one patient were alive with disease for a mean interval of 31 months. SEF of bone is a relatively indolent sarcoma of adults, most commonly located in the flat/irregular bones. Due to overlapping histological features, it is often misdiagnosed as osteosarcoma or a chondroid tumor. Most SEF of bone exhibitEWSR1rearrangements, but rare cases may harbor aFUSgene fusion.