Abstract
BackgroundAccording to WHO, succinate dehydrogenase (SDH)–deficient renal cell carcinoma is characterized by negative immunostaining for SDHB, which remains positive in non-tumor tissue despite germline mutations in the SDHB gene. We now report a patient with a SDHB mutation, c.166_170del (p.Pro56Tyrfs*5) who developed renal cell carcinomas with characteristic morphological features of SDH-deficient renal cell carcinoma but had positive SDHB immunostaining.Case presentationWithin a 6-year period, the patient developed two different renal cell carcinomas, which had characteristic morphological features of SDH-deficient renal cell carcinoma (uniform cells characteristically displaying eosinophilic granular material intermixed with fewer cells exhibiting clear intracytoplasmic inclusions and bland centered nuclei) but displayed immunohistochemistry for SDHB with a cytoplasmic granular positivity (mitochondrial pattern) in tumor cells. For the second case, this was initially interpreted as positive by IHC, but on review some subtle differences were identified.ConclusionsSDHB immunostaining may be positive in renal cell carcinoma associated to germline SDHB deficiency which have other typical morphological features. Immunohistochemistry interpretation may be complex.
Highlights
According to World Health Organization (WHO), succinate dehydrogenase (SDH)–deficient renal cell carcinoma is characterized by negative immunostaining for Succinate dehydrogenase B (SDHB), which remains positive in non-tumor tissue despite germline mutations in the SDHB gene
We report a case of two SDHB-positive Renal Cell Carcinoma (RCC) associated to a germline SDHB mutation
Immunohistochemistry for SDHB was performed in an Omnis platform (Agilent Technologies) using a commercially available mouse monoclonal antibody (ABCAM ab14714, clone 21A11, dilution 1: 100), which is the same used in prior publications that allowed to define this pathological entity
Summary
SDHB immunostaining may be positive in renal cell carcinoma associated to germline SDHB deficiency which have other typical morphological features.
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