title: Ewing sarcoma-peripheral neuroectodermal tumor of the kidney with a FUS-ERG fusion transcript.
abstract: The Ewing family of tumors (EFTs) represents a neoplastic entity characterized by specific chromosomal rearrangements. The most commonly detected translocation involves fusion of EWSR1 to one of the genes encoding ETS family of transcription factors, usually FLI1 or ERG. In rare cases, FUS or FEV has been shown to substitute for EWSR1. The detection of specific translocations by fluorescence in situ hybridization (FISH), reverse transcription-polymerase chain reaction (RT-PCR), or both has become a diagnostic hallmark for the EFTs. We report here a case of small round blue cell tumor detected in the kidney of a 3-year-old girl. The use of FISH in combination with RT-PCR led to identification of a novel FUS-ERG fusion transcript in the tumor, with FUS exons 1-5 fused in-frame to ERG exons 6-9. The results from the molecular analyses were critical for reaching a final diagnostic conclusion of Ewing tumor-peripheral neuroectodermal tumor and hence had important therapeutic implications for the patient.
authors.affiliation: Department of Pathology, University Hospital of Northern Norway, Tromsø, Norway. Thomas.Berg@unn.no
authors.forename: Thomas
authors.initials: T
authors.lastname: Berg
authors.forename: Ann-Hilde
authors.initials: AH
authors.lastname: Kalsaas
authors.forename: Jochen
authors.initials: J
authors.lastname: Buechner
authors.forename: Lill-Tove
authors.initials: LT
authors.lastname: Busund
mesh_terms: D000071443:12E7 Antigen; D015703:Antigens, CD / Q000032:analysis; D015815:Cell Adhesion Molecules / Q000032:analysis; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D007668:Kidney / Q000378:metabolism / Q000473:pathology; D007680:Kidney Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D018241:Neuroectodermal Tumors, Primitive, Peripheral / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D034702:RNA-Binding Protein FUS / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D009418:S100 Proteins / Q000032:analysis; D012512:Sarcoma, Ewing / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D014746:Vimentin / Q000032:analysis
chemical_list: D000071443:12E7 Antigen; D015703:Antigens, CD; C061828:CD99 protein, human; D015815:Cell Adhesion Molecules; D015514:Oncogene Proteins, Fusion; D034702:RNA-Binding Protein FUS; D009418:S100 Proteins; C107302:TLS-ERG fusion protein, human; D014746:Vimentin