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The Use of Reverse Phase Protein Arrays RPPA to Explore Protein Expression Variation within Individual Renal Cell Cancers
Published on: January 22, 2013
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Molecularly defined renal cell carcinomas: practical approaches for surgical pathologists
Mahmut Akgul1,2, Rose S George3, Stephanie E Siegmund1
1Department of Pathology, Brigham and Women's Hospital, Boston, MA, USA.
Histopathology
|December 12, 2025
Summary
Molecularly defined renal carcinomas (MDRC) are rare but significant kidney cancers with specific genetic changes. This review focuses on recognizing MDRC using morphology and immunohistochemistry, guiding further molecular testing.
Area of Science:
- Oncology
- Pathology
- Genetics
Background:
- Molecularly defined renal carcinomas (MDRC) are a diverse group of kidney cancers defined by specific genetic alterations.
- This group includes TFE3/TFEB-rearranged, TFEB-amplified, FH-deficient, SDH-deficient, SMARCB1-deficient renal medullary carcinoma (RMC), ALK-rearranged, and ELOC-mutated renal cell carcinomas (RCC).
- Despite comprising only 5% of RCC, MDRCs have unique biology, diagnostic challenges, and therapeutic relevance.
Purpose of the Study:
- To review the morphologic features and immunohistochemical surrogates for identifying molecularly defined renal carcinomas (MDRC).
- To provide guidance on ancillary testing strategies for MDRC diagnosis in resource-limited settings.
- To highlight the clinical significance and diagnostic pitfalls associated with MDRCs.
Main Methods:
- Review of existing literature on molecularly defined renal carcinomas.
- Emphasis on morphologic recognition of MDRC subtypes.
- Discussion of immunohistochemical markers as surrogates for genetic alterations.
Main Results:
- Morphologic patterns and immunohistochemical profiles can suggest specific MDRC subtypes.
- Certain immunohistochemical stains can serve as effective surrogates for genetic testing.
- A systematic approach to ancillary testing can aid in the diagnosis of MDRC.
Conclusions:
- Accurate diagnosis of MDRC relies on recognizing characteristic morphology and utilizing immunohistochemistry.
- Morphologic and immunohistochemical evaluation can guide molecular testing, improving diagnostic yield.
- Effective management of MDRC requires awareness of their distinct features and appropriate diagnostic workup.
Keywords:
ALKELOC/TCEB1FHSDHSMARCB1/INI1TFE3TFEBFISHMiT family translocation RCCNGSdiagnostic algorithmimmunohistochemistrymetabolic RCCMore Related Videos
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