Sclerosing TFEB Rearrangement Renal Cell Carcinoma: A Recurring Histologic Pattern

• Published in: Human pathology Vol. 62; pp. 175 - 179
• Main Authors: Williamson, Sean R, MD, Eble, John N, MD,MBA, Palanisamy, Nallasivam, PhD
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.04.2017; Elsevier Limited
• Subjects: Antigens; Artificial chromosomes; Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - genetics; Biomarkers, Tumor - analysis; Biomarkers, Tumor - genetics; Biopsy; Calcification; Carcinoma, Renal Cell - chemistry; Carcinoma, Renal Cell - genetics; Carcinoma, Renal Cell - pathology; Carcinoma, Renal Cell - surgery; Cloning; Cytoplasm; Female; Fluorescence in situ hybridization; Gene expression; Gene Rearrangement; Genetic Predisposition to Disease; Humans; Hybridization; Immunohistochemistry; In Situ Hybridization, Fluorescence; Kidney cancer; Kidney Neoplasms - chemistry; Kidney Neoplasms - genetics; Kidney Neoplasms - pathology; Kidney Neoplasms - surgery; Kidney stones; Labeling; Middle Aged; Morphology; Nephrectomy; Ossification, Heterotopic; Pathology; Phenotype; Renal cell carcinoma; Sclerosis; Smooth muscle; TFEB gene; Tomography, X-Ray Computed; Translocation; Tumors; fluorescence in situ hybridization; TFEB gene; renal cell carcinoma; translocation; immunohistochemistry; Translocation; Immunohistochemistry; Renal cell carcinoma; Fluorescence in situ hybridization
• ISSN: 0046-8177; 1532-8392
• DOI: 10.1016/j.humpath.2016.10.024

Summary 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, HMB45, and cathepsin K, and negative caldesmon, SMA, TFE3 protein, carbonic anhydrase IX, CD10, CK7, EMA 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.