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 rearrangement...

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Bibliographic Details
Published in:Virchows Archiv : an international journal of pathology 2019-05, Vol.474 (5), p.625-631
Main Authors: Wyvekens, Nicolas, Rechsteiner, Markus, Fritz, Christine, Wagner, Ulrich, Tchinda, Joëlle, Wenzel, Carina, Kuithan, Friederike, Horn, Lars-Christian, Moch, Holger
Format: Article
Language:English
Subjects:
Amplification
Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - metabolism
Biomarkers, Tumor - analysis
Brief Report
Cancer
Carcinoma, Renal Cell - metabolism
Carcinoma, Renal Cell - pathology
Chromosome rearrangements
Diagnostic systems
Humans
In Situ Hybridization, Fluorescence - methods
Kidney cancer
Kidney Neoplasms - metabolism
Kidney Neoplasms - pathology
Kidney stones
Medicine
Medicine & Public Health
Morphology
Pathology
Renal cell carcinoma
Transcription factors
Translocation
Translocation, Genetic - genetics
Tumors
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Summary: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.
ISSN:0945-6317
1432-2307
DOI:10.1007/s00428-019-02526-8