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Updated: Jan 30, 2026

Comparing Metastatic Clear Cell Renal Cell Carcinoma Model Established in Mouse Kidney and on Chicken Chorioallantoic Membrane
Published on: February 8, 2020
Histological and molecular characterization of TFEB-rearranged renal cell carcinomas
Nicolas Wyvekens1, Markus Rechsteiner1, Christine Fritz1
1Department of Pathology and Molecular Pathology, University Hospital and University Zurich, Schmelzbergstrasse 12, 8091, Zurich, Switzerland.
Abstract:
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.
Insights
Microphthalmia transcription factor (MiT) family translocation renal cell carcinomas, including TFEB-translocated and TFEB-amplified types, are distinct entities. Differentiating these rare kidney cancers is crucial due to potential differences in aggressive behavior.
Area of Science:
- Oncology
- Genetics
- Pathology
Background:
- The 2016 WHO Classification identifies MiT family translocation carcinomas in renal cell carcinoma (RCC).
- TFE3 and TFEB are MiT family members implicated in RCC development through chromosomal rearrangements.
- TFEB translocation RCC (t(6;11)) is rare, and TFEB amplification in RCC has recently been identified.
Purpose of the Study:
- To present distinct histological, immunohistochemical, and molecular characteristics of TFEB-translocated and TFEB-amplified RCC.
- To review the literature on TFEB-rearranged RCCs, focusing on morphology, immunophenotype, genetics, and clinical outcomes.
- To emphasize differential diagnoses and diagnostic approaches for TFEB-altered RCCs.
Main Methods:
- Case presentation of TFEB-translocated and TFEB-amplified renal cell carcinomas.
- Histological and immunohistochemical analysis.
- Molecular characterization.
- Literature review of TFEB-rearranged RCCs.
Main Results:
- TFEB-translocated and TFEB-amplified RCCs exhibit distinct histological, immunohistochemical, and molecular profiles.
- TFEB-amplified RCC may show more aggressive behavior compared to TFEB-translocated RCC.
- Literature review provides comprehensive data on TFEB-rearranged RCCs.
Conclusions:
- Accurate distinction between TFEB-translocated and TFEB-amplified RCC is essential for appropriate patient management.
- Understanding the distinct features of these rare RCC subtypes aids in diagnosis and prognosis.
- Further research into TFEB-altered RCCs is warranted to optimize treatment strategies.
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