Role of BRCA2 gene mutation in renal tumorigenesis remains largely unclear. There are only two case reports of renal cell carcinoma (RCC) with BRCA2 mutation, both of which showed a high-grade RCC with various architectural patterns including tubulopapillary and solid. The tumor cells were described as having eosinophilic cytoplasm and prominent nucleoli. The current study describes another case of high-grade RCC with somatic BRCA2 mutation with various architectural patterns and cells with eosinophilic cytoplasm and prominent nucleoli. Immunohistochemical staining showed co-expression of PAX8, CAIX, CD10, CK7, CK20, and P504S. This unusual co-expression of the commonly used IHC stains during the workup of RCC could serve as a potential diagnostic pitfall. Although very rare, it is important for pathologists to be aware of this form of RCC due to its aggressive clinical behavior, possibility of a germline mutation, and current therapeutic options for tumors with BRCA2 mutation.

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http://dx.doi.org/10.1007/s00428-024-04008-yDOI Listing

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