Related Experiment Video
Updated: Jun 17, 2026
05:36
Comparing Metastatic Clear Cell Renal Cell Carcinoma Model Established in Mouse Kidney and on Chicken Chorioallantoic Membrane
Published on: February 8, 2020
Xp11.2 translocation renal cell carcinoma
Henry B Armah1, Anil V Parwani
1Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania 15213, USA. armahh2@upmc.edu
Archives of Pathology & Laboratory Medicine
|January 16, 2010
Summary
Xp11.2 translocation renal cell carcinomas (RCCs) are rare, distinct tumors primarily affecting young patients. Molecular analysis reveals gene fusions involving the TFE3 gene, impacting diagnosis and understanding of this RCC subtype.
Area of Science:
- Oncology
- Genetics
- Pathology
Background:
- Xp11.2 translocation renal cell carcinomas (RCCs) represent a distinct subtype, predominantly affecting pediatric patients.
- These rare tumors are characterized by translocations at chromosome Xp11.2, leading to gene fusions involving the transcription factor E3 (TFE3) gene.
- At least six different molecularly defined Xp11.2 translocation RCC subtypes have been identified.
Purpose of the Study:
- To review the molecular characteristics, histology, and clinical behavior of Xp11.2 translocation renal cell carcinomas.
- To highlight the diagnostic significance of TFE3 gene fusions and immunohistochemistry in identifying this RCC subtype.
- To discuss the potential expansion of the spectrum of Xp11.2 translocation RCC regarding age, clinical presentation, and molecular abnormalities.
Main Methods:
- Review of existing literature on Xp11.2 translocation RCC.
- Molecular characterization of identified gene fusions, including ASPL-TFE3.
- Histopathological and immunohistochemical analysis, focusing on TFE3 protein expression.
Main Results:
- Xp11.2 translocation RCCs exhibit characteristic papillary or nested architecture with voluminous cells.
- Nuclear TFE3 protein labeling is a consistent immunohistochemical feature.
- While often considered indolent, adult cases may present with aggressive clinical behavior.
Conclusions:
- Consistent TFE3 immunohistochemistry aids in diagnosing Xp11.2 translocation RCC across all age groups.
- The understanding of Xp11.2 translocation RCC is expanding concerning age distribution, clinical course, and molecular diversity.
- Further research is warranted to fully elucidate the clinical implications and management of this rare RCC subtype.
