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A case report from osteosarcoma to SEF: A diagnostic pitfall with a rare metastatic pattern
Somaya Al Kiswani1, Omar Daas2, Mira Al Jabi1
1Radiology Department, King Hussein Cancer Center, Amman, Jordan.
Radiology Case Reports
|August 5, 2025
Summary
Sclerosing epithelioid fibrosarcoma (SEF) is a rare, aggressive cancer that is often misdiagnosed. This case highlights SEF
Area of Science:
- Oncology
- Genetics
- Pathology
Background:
- Sclerosing epithelioid fibrosarcoma (SEF) is an aggressive soft tissue sarcoma.
- SEF presents with a deceptively bland histologic appearance, complicating diagnosis.
- High metastatic potential is characteristic of SEF, often leading to delayed treatment.
Observation:
- A 21-year-old male was initially misdiagnosed with osteosarcoma.
- Diagnosis was revised to SEF post-surgery based on Ewing Sarcoma Receptor 1 (EWSR1) gene rearrangement.
- The patient developed widespread metastatic disease despite aggressive multimodal therapy.
Findings:
- SEF exhibits resistance to conventional chemotherapy and radiotherapy.
- Molecular testing, specifically for EWSR1 gene rearrangements, is crucial for accurate SEF diagnosis.
- Despite extensive treatment, the patient's disease progressed, leading to a fatal outcome.
Implications:
- This case underscores the diagnostic challenges associated with SEF.
- There is a critical need for novel therapeutic strategies to improve outcomes for SEF patients.
- Early and accurate molecular diagnosis is essential for appropriate SEF management.
