Abstract
We report a case of intraabdominal sclerosing epithelioid fibrosarcoma (SEF) with a t (11;22)(p11.2;q12.2) Ewing sarcoma breakpoint region 1-cAMP-responsive element-binding protein 3-like 1 translocation. A 43-year old man presented with massive ascites and shortness of breath. Imaging studies revealed a large mesenteric-based mass with extensive omental/peritoneal disease. After resection and cytoreductive surgery, the tumor recurred with metastasis to the lungs; the patient is still alive with disease. Histologically, there was a uniform population of epithelioid cells arranged in cords and nests, embedded in a dense collagenous matrix; no areas of low-grade fibromyxoid sarcoma were identified. All immunohistochemical markers were nonreactive. Fluorescence in situ hybridization studies showed rearrangement of Ewing sarcoma breakpoint region 1. Genomic profiling by clinical grade next-generation sequencing revealed a fusion gene between intron 11 of Ewing sarcoma breakpoint region 1 (22q12.2) and intron 5 of cAMP-responsive element-binding protein 3-like 1 (11p11.2). This is the first report of "pure" or true SEF presenting as intraabdominal sarcomatosis with confirmation of the recently described unique Ewing sarcoma breakpoint region 1-cAMP-responsive element-binding protein 3-like 1 gene fusion in SEF without areas of low-grade fibromyxoid sarcoma.
Original language | English (US) |
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Pages (from-to) | 2173-2178 |
Number of pages | 6 |
Journal | Human Pathology |
Volume | 45 |
Issue number | 10 |
DOIs | |
State | Published - Oct 1 2014 |
Externally published | Yes |
Keywords
- CREB3L1
- EWSR1
- Fibrosarcoma
- LGFMS
- Low-grade fibromyxoid sarcoma
- Mesothelioma
- SEF
- Sclerosing epithelioid fibrosarcoma
- T(11;22)
ASJC Scopus subject areas
- Pathology and Forensic Medicine