title: Primary renal sclerosing epithelioid fibrosarcoma: report of 2 cases with EWSR1-CREB3L1 gene fusion.
abstract: We report the first 2 genetically confirmed cases of primary renal sclerosing epithelioid fibrosarcoma (SEF), occurring in a 17-year-old boy and a 61-year-old woman. In both cases, the tumors demonstrated the typical epithelioid clear cell morphology associated with extensive hyalinizing fibrosis, raising the differential diagnosis of solitary fibrous tumor, metanephric stromal tumor, and the sclerosing variant of clear cell sarcoma of the kidney. Both neoplasms demonstrated diffuse immunoreactivity for MUC4, a highly specific marker for SEF, and both demonstrated evidence of rearrangement of both the EWSR1 and CREB3L1 genes, which have recently been shown to be fused in this entity. Both neoplasms presented with metastatic disease. Primary renal SEF represents yet another translocation-associated sarcoma now shown to arise primarily in the kidney.
authors.affiliation: Departments of *Pathology †Oncology, The Johns Hopkins Medical Institutions, Baltimore, MD ‡Department of Pathology, University of Mississippi Medical Center, Jackson, MS §Department of Pathology, Abbington Medical Center, Abbington, PA ∥Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, NY.
authors.forename: Pedram
authors.initials: P
authors.lastname: Argani
authors.forename: Jack R
authors.initials: JR
authors.lastname: Lewin
authors.forename: Pamela
authors.initials: P
authors.lastname: Edmonds
authors.forename: George J
authors.initials: GJ
authors.lastname: Netto
authors.forename: Carlos
authors.initials: C
authors.lastname: Prieto-Granada
authors.forename: Lei
authors.initials: L
authors.lastname: Zhang
authors.forename: Achim A
authors.initials: AA
authors.lastname: Jungbluth
authors.forename: Cristina R
authors.initials: CR
authors.lastname: Antonescu
mesh_terms: D000293:Adolescent; D014408:Biomarkers, Tumor / Q000032:analysis / Q000235:genetics*; D002148:Calmodulin-Binding Proteins / Q000235:genetics*; D017362:Cyclic AMP Response Element-Binding Protein / Q000235:genetics*; D015622:Epithelioid Cells / Q000737:chemistry / Q000473:pathology*; D017809:Fatal Outcome; D005260:Female; D005354:Fibrosarcoma / Q000737:chemistry / Q000235:genetics* / Q000556:secondary / Q000628:therapy; D050939:Gene Fusion; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D007680:Kidney Neoplasms / Q000737:chemistry / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D008297:Male; D008875:Middle Aged; D055264:Mucin-4 / Q000032:analysis; D009419:Nerve Tissue Proteins / Q000235:genetics*; D034802:RNA-Binding Protein EWS; D016601:RNA-Binding Proteins / Q000235:genetics*; D012598:Sclerosis; D014057:Tomography, X-Ray Computed
chemical_list: D014408:Biomarkers, Tumor; C485618:CREB3L1 protein, human; D002148:Calmodulin-Binding Proteins; D017362:Cyclic AMP Response Element-Binding Protein; C500986:EWSR1 protein, human; C524658:MUC4 protein, human; D055264:Mucin-4; D009419:Nerve Tissue Proteins; D034802:RNA-Binding Protein EWS; D016601:RNA-Binding Proteins