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Hum Pathol. 2014 Oct;45(10):2173-8. doi: 10.1016/j.humpath.2014.05.006. Epub 2014 Jun 2.

Sclerosing epithelioid fibrosarcoma presenting as intraabdominal sarcomatosis with a novel EWSR1-CREB3L1 gene fusion.

Author information

1
Departments of Pathology, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd Unit 085, Houston, TX 77030.
2
Foundation Medicine, 150 Second St, Cambridge, MA 02141.
3
Foundation Medicine, 150 Second St, Cambridge, MA 02141; Department of Pathology and Laboratory Medicine, Albany Medical College, 47 New Scotland Ave, Albany, NY 12208.
4
Departments of Pathology, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd Unit 085, Houston, TX 77030. Electronic address: jmmeis@mdanderson.org.

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.

KEYWORDS:

CREB3L1; EWSR1; Fibrosarcoma; LGFMS; Low-grade fibromyxoid sarcoma; Mesothelioma; SEF; Sclerosing epithelioid fibrosarcoma; T(11;22)

PMID:
25123073
DOI:
10.1016/j.humpath.2014.05.006
[Indexed for MEDLINE]
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