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Succinate Dehydrogenase-Deficient Renal Cell Carcinoma: A Case Report and Brief Review of the Literature —SDH-Deficient RCC

Year: 2026

Type: article

Abstract: Succinate dehydrogenase (SDH) is a critical enzyme that connects the tricarboxylic acid cycle and the mitochondrial electron transport chain, and pathogenic germline variants in SDH-related genes may be inherited in an autosomal dominant pattern, unlike other mitochondrial complexes, and predispose to SDH-deficient RCC. A 24-year-old male presenting with hematuria was found to have a mass in the left kidney. A radical nephrectomy was performed. Gross examination showed an exophytic mass at the upper pole of the left kidney. The tumor was well-circumscribed with a tan-brown, red-cut surface. Microscopically, the tumor had a pushing border, entrapping benign tubules at the periphery. The neoplastic cells demonstrated a variably solid or nested architecture and had eosinophilic to clear wispy cytoplasmic vacuoles or inclusions representing the large mitochondria. Immunohistochemically, complete loss of expression for SDH-B in the tumor cells was evident. SDH-deficient renal cell carcinoma is described as a rare entity with fewer than 75 case reports.

Source: Case Reports in Clinical Medicine

DOI: 10.4236/crcm.2026.1510058