title: Renal cell carcinoma with TFE3 translocation and succinate dehydrogenase B mutation.
abstract: Translocation renal cell carcinoma and succinate dehydrogenase (SDH)-deficient renal cell carcinoma are now recognized as specific renal tumor types in the World Health Organization (WHO) classification. Both have limited immunohistochemical positivity for epithelial markers, and the spectrum of morphology continues to widen for both of these entities. We identified four renal cell carcinomas with positive TFE3 immunohistochemical staining and negative SDHB staining. The patients (2F, 2M) ranged in age from 19 to 65 years. All tumors were composed, at least in part, of eosinophilic cells. Cytoplasmic inclusions, prominent nucleoli, and mitotic figures were seen in three tumors. Psammoma bodies were also present in two tumors. Using immunohistochemistry, a broad spectrum of commonly used renal tumor markers yielded nonspecific, limited positivity, including uniformly positive reactions for PAX8 but negative results for cathepsin K and HMB45. Fluorescence in situ hybridization results showed the presence of TFE3 gene rearrangement in all four tumors, and molecular analysis revealed SDHB mutations in neoplastic cells of three tumors. In one case, the same SDHB mutation was confirmed in the adjacent non-neoplastic tissue. We report for the first time the presence of both TFE3 translocation and SDHB mutation in the same tumor.
authors.affiliation: Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.|Department of Pathology, University of Verona, Verona, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Calió
authors.affiliation: Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.
authors.forename: David J
authors.initials: DJ
authors.lastname: Grignon
authors.affiliation: Department of Pathology, University of California San Francisco, San Francisco, CA, USA.
authors.forename: Bradley A
authors.initials: BA
authors.lastname: Stohr
authors.affiliation: Department of Pathology and Laboratory Medicine, Henry Ford Health System, Detroit, MI, USA.
authors.forename: Sean R
authors.identifier: 0000-0002-3898-1460
authors.initials: SR
authors.lastname: Williamson
authors.affiliation: Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.
authors.forename: John N
authors.initials: JN
authors.lastname: Eble
authors.affiliation: Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.|Department of Urology, Indiana University School of Medicine, Indianapolis, IN, USA.
authors.forename: Liang
authors.initials: L
authors.lastname: Cheng
mesh_terms: D000328:Adult; D000368:Aged; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics*; D002292:Carcinoma, Renal Cell / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D005260:Female; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009392:Nephrectomy; D013385:Succinate Dehydrogenase / Q000235:genetics*; D014178:Translocation, Genetic; D055815:Young Adult
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; C069203:TFE3 protein, human; C108095:SDHB protein, human; D013385:Succinate Dehydrogenase