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

Summary 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 studi...

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Bibliographic Details
Published in:Human pathology 2014-10, Vol.45 (10), p.2173-2178
Main Authors: Stockman, David L., MD, Ali, Siraj M., MD, PhD, He, Jie, PhD, Ross, Jeffrey S., MD, Meis, Jeanne M., MD
Format: Article
Language:English
Subjects:
Abdominal Neoplasms - genetics
Abdominal Neoplasms - pathology
Adult
CREB3L1
EWSR1
Fibrosarcoma
Fibrosarcoma - genetics
Fibrosarcoma - pathology
Humans
Immunohistochemistry
In Situ Hybridization, Fluorescence
LGFMS
Low-grade fibromyxoid sarcoma
Male
Mesothelioma
Oncogene Proteins, Fusion - genetics
Pathology
Sarcoma - genetics
Sarcoma - pathology
Sclerosing epithelioid fibrosarcoma
Sclerosis
SEF
T(11
22)
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Summary:Summary 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.
ISSN:0046-8177
1532-8392
DOI:10.1016/j.humpath.2014.05.006