title: Sclerosing epithelioid fibrosarcoma presenting as intraabdominal sarcomatosis with a novel EWSR1-CREB3L1 gene fusion.
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.
authors.affiliation: Departments of Pathology, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd Unit 085, Houston, TX 77030.
authors.forename: David L
authors.initials: DL
authors.lastname: Stockman
authors.affiliation: Foundation Medicine, 150 Second St, Cambridge, MA 02141.
authors.forename: Siraj M
authors.initials: SM
authors.lastname: Ali
authors.affiliation: Foundation Medicine, 150 Second St, Cambridge, MA 02141.
authors.forename: Jie
authors.initials: J
authors.lastname: He
authors.affiliation: Foundation Medicine, 150 Second St, Cambridge, MA 02141; Department of Pathology and Laboratory Medicine, Albany Medical College, 47 New Scotland Ave, Albany, NY 12208.
authors.forename: Jeffrey S
authors.initials: JS
authors.lastname: Ross
authors.affiliation: Departments of Pathology, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd Unit 085, Houston, TX 77030. Electronic address: jmmeis@mdanderson.org.
authors.forename: Jeanne M
authors.initials: JM
authors.lastname: Meis
mesh_terms: D000008:Abdominal Neoplasms / Q000235:genetics / Q000473:pathology; D000328:Adult; D005354:Fibrosarcoma / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D012509:Sarcoma / Q000235:genetics* / Q000473:pathology*; D012598:Sclerosis
chemical_list: C574775:EWSR1-CREB1 fusion protein, human; D015514:Oncogene Proteins, Fusion
keywords: CREB3L1; EWSR1; Fibrosarcoma; LGFMS; Low-grade fibromyxoid sarcoma; Mesothelioma; SEF; Sclerosing epithelioid fibrosarcoma; T(11;22)