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Histological and molecular characterization of TFEB-rearranged renal cell carcinomas.

The 2016 WHO Classification of Tumors of the Urinary System recognizes microphthalmia transcription factor (MiT) family translocation carcinomas as a separate entity among renal cell carcinomas. TFE3 and transcription factor EB (TFEB) are members of the MiT family for which chromosomal rearrangements have been associated with renal cell carcinoma formation. TFEB translocation renal cell carcinoma is a rare tumor harboring a t(6;11)(p21;q12) translocation. Recently, renal cell carcinomas with TFEB amplification have been identified. TFEB amplified renal cell carcinomas have to be distinguished from TFEB-translocated renal cancer, because they may demonstrate a more aggressive behavior. Herein, we present a TFEB-translocated and a TFEB-amplified carcinoma cases and describe their distinct histological, immunohistochemical, and molecular characteristics. In addition, we review conventional morphology, immunophenotype, genetic background, and clinical outcome of TFEB-rearranged RCCs in the literature, with a special emphasis on important differential diagnoses and the diagnostic approach.

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