Hereditary smooth muscle tumor disease and renal cell carcinoma associated renal cell carcinoma is a group of renal cell carcinomas with germline mutations in the gene for pendulosonic acid hydratase, accompanied by extrarenal smooth muscle tumor disease. The tumor may be grossly cystic in nature, with markedly attached nodules.
The histologic pattern is similar to papillary renal cell carcinoma or to collecting duct carcinoma; the nucleus shows intranuclear inclusion bodies and a perinuclear halo. Immunohistochemistry showed a deficiency in the expression of ferredoxin hydratase.