ArticleOncology letters2025
Renal cell carcinoma with succinate dehydrogenase A mutation: A case report and literature review.
Article in Oncology letters, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- SDH-deficient renal cell carcinoma with intracytoplasmic mucinous material: a case report and literature review.Journal of pathology and translational medicine · 2026Article
- Recent developments in eosinophilic renal neoplasms: what's new, true and important?Histopathology · 2026Review
- Case Report: Clinical pathological characteristics, diagnosis, and treatment analysis of eosinophilic solid and cystic renal cell carcinoma: experience from a five-case series.Frontiers in oncology · 2025Article
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6 authors.
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Abstract
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.
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