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MiT family translocation renal cell carcinoma
1Department of Pathology, The Johns Hopkins University School of Medicine, The Johns Hopkins Hospital, 401 North Broadway, Weinberg 2242, Baltimore, Maryland 21231.
Seminars in Diagnostic Pathology
|March 12, 2015
Summary
MiT family translocation renal cell carcinomas (RCCs), involving TFE3 or TFEB gene fusions, share clinical, morphologic, and immunohistochemical similarities. These rare kidney cancers are now grouped together, aiding diagnosis and understanding.
Area of Science:
- Oncology
- Genetics
- Pathology
Background:
- Renal cell carcinoma (RCC) encompasses various subtypes.
- Gene fusions involving the MiT family of transcription factors (TFE3, TFEB) define specific RCC subtypes.
- Xp11 translocation RCCs (TFE3 fusions) and t(6;11) RCCs (TFEB fusions) were recognized in recent classifications.
Purpose of the Study:
- To review and summarize current knowledge on MiT family translocation RCCs.
- To highlight the similarities and overlaps between Xp11 translocation RCCs and t(6;11) RCCs.
- To discuss the clinical, morphologic, immunohistochemical, and genetic features of these rare kidney cancers.
Main Methods:
- Review of existing literature on MiT family translocation RCCs.
- Analysis of clinical presentation, histopathology, immunohistochemistry, and genetic findings.
- Comparison of Xp11 translocation RCCs and t(6;11) RCCs.
Main Results:
- Both Xp11 and t(6;11) RCCs disproportionately affect younger patients but occur in adults too.
- Distinctive yet overlapping morphologies are observed, including clear cells, papillary architecture, psammomatous bodies, biphasic patterns, and basement membrane material.
- Shared features include underexpression of epithelial markers (cytokeratin, EMA), frequent expression of cathepsin K, and expression of melanocytic markers (HMB45, Melan A).
- TFE3 and TFEB transcription factors have overlapping functions, often heterodimerizing.
Conclusions:
- Clinical, morphologic, immunohistochemical, and genetic similarities support grouping Xp11 and t(6;11) RCCs.
- The 2013 ISUP Vancouver classification unified these under "MiT family translocation RCC."
- This classification aids in the diagnosis and management of these rare renal neoplasms.
