Abstract
Sclerosing epithelioid fibrosarcoma (SEF) is an uncommon neoplasm that rarely presents in bone. It is characterized by epithelioid cells arranged in nests and single-file cords within a sclerotic stromal background which may mimic neoplastic bone. SEF harbors an EWSR1 translocation, which may complicate its distinction from Ewing sarcoma in cases with histomorphologic overlap. We present a diagnostically challenging case of SEF in the mandible of a 16-year-old girl. Our experience highlights the lack of specificity of traditional morphology and EWSR1 break-apart fluorescent in situ hybridization. Open-ended RNA-based fusion gene testing coupled with MUC4 immunohistochemistry aided the eventual diagnosis in this case. Herein, we report the third case of SEF with EWSR1-CREB3L3 translocation and show that this fusion leads to aberrant upregulation of the phosphoinositide 3-kinase/mammalian target of rapamycin signaling pathway in heterologous cell models.
Original language | English |
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Pages (from-to) | 594-598 |
Number of pages | 5 |
Journal | Pediatric and Developmental Pathology |
Volume | 22 |
Issue number | 6 |
DOIs | |
State | Published - 1 Dec 2019 |
Externally published | Yes |
Keywords
- EWSR1 translocation
- Ewing sarcoma
- bone tumors
- molecular oncology
- sarcoma
- sclerosing epithelioid fibrosarcoma