Abstract
SDH Gene mutation is known to be a common cause of pheochromocytoma/paraganglioma and renal cell carcinoma. Here, we report a case of succinate dehydrogenase B-deficient paraganglioma, which has a high risk of metastasis and recurrence, complicated by succinate dehydrogenase-deficient renal cell carcinoma, which is rare and accounts for approximately 0.1% of all renal cell carcinomas. A 50-year-old man underwent en bloc resection of a retroperitoneal tumor and the right kidney for retroperitoneal paraganglioma and right renal tumor. Both tumors showed negative expressions of succinate dehydrogenase B in immunostaining. The patient was diagnosed with succinate dehydrogenase-deficient paraganglioma and succinate dehydrogenase-deficient renal cell carcinoma. Seventeen months later, retroperitoneal lymphadenectomy revealed lymph node metastasis of the paraganglioma. Deletion of the SDHB gene was revealed by genome sequencing of the lymph node. This is the first reported case of synchronously diagnosed succinate dehydrogenase-deficient paraganglioma and succinate dehydrogenase-deficient renal cell carcinoma.
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