Renal cell carcinoma with succinate dehydrogenase A mutation: A case report and literature review

Succinate dehydrogenase (SDH)-deficient renal cell carcinoma (RCC) is a rare subtype of RCC characterized by the presence of a germline mutation in one of the four subunits of the SDH enzyme complex (SDHA, SDHB, SDHC and SDHD). Together with a somatic second hit, these variants lead to the loss of function of the SDH complex. SDH-deficient RCC associated with SDHA mutation is a rare condition; to the best of our knowledge, there have been only four patients reported in the literature. The present study describes the case of a 22-year-old female patient with RCC associated with SDHA gene mutation. Next-generation sequencing and Sanger sequencing identified a novel heterozygous frameshift variant (NM_004168.4: c.992_999dup) in the SDHA gene. In the literature, this mutation has not previously been reported to be associated with RCC. The present description of a patient with a heterozygous SDHA frameshift variant expands the phenotypic spectrum of the SDHA gene, and provides further clinical, morphological and molecular data of SDHA-deficient RCC.