title: Sclerosing TFEB-rearrangement renal cell carcinoma: a recurring histologic pattern.
abstract: Renal cell carcinoma with TFEB rearrangement (t[6;11][p21;q13]) was initially recognized to be composed of dual populations of large cells with clear cytoplasm and small cells forming rosettes around hyaline material. With increasing awareness, however, the spectrum of described morphology has been found to be more heterogeneous. We report a 54-year-old woman who underwent partial nephrectomy for a 2.4-cm renal mass, composed of fibrosis, hyalinization, calcification, and ossification and a smaller component of epithelioid cells. Immunohistochemical staining revealed diffuse positivity for cytokeratin AE1/AE3 and PAX8, patchy labeling for melan-A, human melanosome, and cathepsin K, and negative caldesmon, smooth muscle actin, TFE3 protein, carbonic anhydrase IX, CD10, cytokeratin 7, epithelial membrane antigen, and inhibin. Fluorescence in situ hybridization confirmed rearrangement of TFEB and not TFE3. Together with one recent case in another report, our findings suggest that extensive sclerosis and ossification may be a less common recurring histology of TFEB-rearrangement renal cell carcinoma.
authors.affiliation: Department of Pathology and Laboratory Medicine, Henry Ford Health System, Detroit, MI 48202, USA; Josephine Ford Cancer Institute, Henry Ford Health System, Detroit, MI 48202, USA; Wayne State University School of Medicine, Detroit, MI 48201, USA. Electronic address: seanwill@temple.edu.
authors.forename: Sean R
authors.initials: SR
authors.lastname: Williamson
authors.affiliation: Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
authors.forename: John N
authors.initials: JN
authors.lastname: Eble
authors.affiliation: Department of Urology, Vattikutti Urology Institute, Henry Ford Health System, Detroit, MI 48202, USA; Michigan Center for Translational Pathology, University of Michigan, Ann Arbor, MI 48109, USA.
authors.forename: Nallasivam
authors.initials: N
authors.lastname: Palanisamy
mesh_terms: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics*; D014408:Biomarkers, Tumor / Q000032:analysis / Q000235:genetics*; D001706:Biopsy; D002292:Carcinoma, Renal Cell / Q000737:chemistry / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D005260:Female; D015321:Gene Rearrangement; D020022:Genetic Predisposition to Disease; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D007680:Kidney Neoplasms / Q000737:chemistry / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D008875:Middle Aged; D009392:Nephrectomy; D009999:Ossification, Heterotopic; D010641:Phenotype; D012598:Sclerosis; D014057:Tomography, X-Ray Computed
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D014408:Biomarkers, Tumor; C064972:TFEB protein, human
keywords: Fluorescence in situ hybridization; Immunohistochemistry; Renal cell carcinoma; TFEB gene; Translocation