Succinate dehydrogenase (SDH)-deficient renal cell carcinoma (RCC) is a rare RCC subtype that is caused by biallelic mutation of one of the four subunits of the SDH complex (SDHA, B, C, and D) and results in inactivation of the SDH enzyme. Here we describe a case of genetically characterized SDH-deficient RCC caused by biallelic (germline plus somatic) SDHA mutations. SDHA pathogenic variants were detected using comprehensive genomic profiling and SDH absence was subsequently confirmed by immunohistochemistry. Very little is known regarding the genomic context of SDH-deficient RCC. Interestingly we found genomic amplifications commonly observed in RCC but there was an absence of additional variants in common cancer driver genes. Prior to genetic testing a PD-1 inhibitor treatment was administered. However, following the genetic results a succession of tyrosine kinase inhibitors were administered as targeted treatment options and we highlight how the genetic results provide a rationale for their effectiveness. We also describe how the genetic results benefited the patient by empowering him to adopt dietary and lifestyle changes in accordance with knowledge of the mechanisms of SDH-related tumorigenesis.

琥珀酸脱氢酶（SDH）缺陷型肾细胞癌（RCC）是一种罕见的RCC亚型，它是由SDH复合物的四个亚基之一（SDHA，B，C和D）的双等位基因突变引起的，并导致其失活。 SDH酶。在这里，我们描述了由双等位基因（种系加上体细胞）SDHA突变引起的具有遗传特征的SDH缺陷型RCC的病例。SDHA使用全面的基因组分析来检测病原体变体，随后通过免疫组织化学方法确认没有SDH。关于SDH缺陷RCC的基因组背景了解甚少。有趣的是，我们发现了在RCC中通常观察到的基因组扩增，但是在常见的癌症驱动基因中没有其他变体。在基因测试之前，先进行PD-1抑制剂治疗。然而，根据遗传结果，将一系列酪氨酸激酶抑制剂作为靶向治疗方案进行管理，我们重点介绍了遗传结果如何为其有效性提供理论依据。我们还描述了遗传结果如何通过授权患者根据SDH相关肿瘤发生机理的知识采取饮食和生活方式改变来使患者受益。