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

Hu,Min; Wang,Xiao-Tong; Xiao,Xue-Xue; Rao,Qiu; Fan,Li-Fang; Yue,Jun-Qiu

doi:10.3892/ol.2024.14830

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

Authors:
- Min Hu
- Xiao-Tong Wang
- Xue-Xue Xiao
- Qiu Rao
- Li-Fang Fan
- Jun-Qiu Yue
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Affiliations: Department of Pathology, Hubei Cancer Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430079, P.R. China, Department of Pathology, Jinling Hospital, Medical School of Nanjing University, Nanjing, Jiangsu 210002, P.R. China, Department of Pathology, Zhongnan Hospital of Wuhan University, Wuhan, Hubei 430071, P.R. China
Published online on: December 3, 2024 https://doi.org/10.3892/ol.2024.14830
Article Number: 84
Copyright: © Hu et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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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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