title: Expanding the Spectrum of Renal Tumors in Children: Primary Renal Myoepithelial Carcinomas With a Novel EWSR1-KLF15 Fusion.
abstract: We report the first 2 examples of primary renal myoepithelial carcinoma (MEC), both occurring in children. Both tumors had the unique morphologic features, immunophenotype, and EWSR1 gene rearrangements supporting the diagnosis. In keeping with the previous observations of an aggressive behavior in pediatric MEC, both cases presented with advanced local stage and distant metastases at the time of diagnosis. The EWSR1 translocation partner was identified as the Kruppel-like factor 15 (KLF15) gene in both tumors, and the novel EWSR1-KLF15 gene fusion transcripts were verified using reverse transcription polymerase chain reaction and Sanger dideoxy sequencing. So far, a role for KLF15 in carcinogenesis has not been established, in contrast to other members of the Kruppel-like family of transcription factors, and no rearrangements involving this gene have been documented to our knowledge. These findings expand the spectrum of pediatric renal tumors to include MEC. The characterization of novel EWSR1-KLF15 fusion transcripts carries important diagnostic implications, as well as clues to understand the pathogenesis of these neoplasms.
authors.affiliation: *Department of Pathology and Laboratory Medicine, Robert Lurie Cancer Center, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL †Department of Pathology, Colorado Pathology Consultants, Saint Joseph Hospital, Denver, CO ‡LMC Pathology Services, Sunrise Children's Hospital, Las Vegas, NV §Department of Pediatric Hematology/Oncology ∥Spectrum Health Regional Laboratory, Helen DeVos Children's Hospital, Grand Rapids, MI ¶Division of Pediatric Oncology, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, OH.
authors.forename: Mariana M
authors.initials: MM
authors.lastname: Cajaiba
authors.forename: Lawrence J
authors.initials: LJ
authors.lastname: Jennings
authors.forename: Stephen M
authors.initials: SM
authors.lastname: Rohan
authors.forename: Katrin M
authors.initials: KM
authors.lastname: Leuer
authors.forename: Miran R
authors.initials: MR
authors.lastname: Anagnost
authors.forename: James B
authors.initials: JB
authors.lastname: Fahner
authors.forename: Barbara K
authors.initials: BK
authors.lastname: Fulton
authors.forename: James I
authors.initials: JI
authors.lastname: Geller
authors.forename: Elizabeth J
authors.initials: EJ
authors.lastname: Perlman
mesh_terms: D001483:Base Sequence; D014408:Biomarkers, Tumor / Q000032:analysis / Q000235:genetics*; D001706:Biopsy; D002148:Calmodulin-Binding Proteins / Q000235:genetics*; D017024:Chemotherapy, Adjuvant; D002648:Child; D002675:Child, Preschool; D005260:Female; D050939:Gene Fusion; D020022:Genetic Predisposition to Disease; D006801:Humans; D007150:Immunohistochemistry; D007680:Kidney Neoplasms / Q000737:chemistry / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D051741:Kruppel-Like Transcription Factors / Q000235:genetics*; D008969:Molecular Sequence Data; D009208:Myoepithelioma / Q000737:chemistry / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D009392:Nephrectomy; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D034802:RNA-Binding Protein EWS; D016601:RNA-Binding Proteins / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome
chemical_list: D014408:Biomarkers, Tumor; D002148:Calmodulin-Binding Proteins; C500986:EWSR1 protein, human; C414172:KLF15 protein, human; D051741:Kruppel-Like Transcription Factors; D009687:Nuclear Proteins; D034802:RNA-Binding Protein EWS; D016601:RNA-Binding Proteins