Background: Succinate dehydrogenase (SDH)- deficient renal cell carcinoma (RCC) is a newly identified rare\nsubtype of RCC, having only gained acceptance from the World Health Organization in 2016. To the best of our\nknowledge, there are only 55 reported cases worldwide. Here, we report a new case of SDH-deficient RCC.\nCase presentation: A 49-year-old male patient was incidentally found to have a large right renal mass. He had no\npersonal or family history of paragangliomas (PGL), pheochromocytomas (PC), or gastrointestinal stromal tumors\n(GIST). The neoplasm was unilateral and unifocal. He underwent an open partial nephrectomy. Detailed pathological\nanalysis was conducted to confirm the diagnosis. Genetic testing revealed a pathogenic mutation in the SDHB\ngene. He has been followed for 24 months now and has remained well without any evidence of local or distant\nrecurrence. In this report we describe our experience with this diagnosis and review the relevant clinical,\npathological, and genetic features.\nConclusions: Without the identification of SDHB deficiency, this patientâ??s personal and familial predisposition to PC,\nPGL, GIST and metachronous RCCs may have gone undetected despite his RCC diagnosis. When faced with an\neosinophilic RCC, pathologists should routinely search for vacuoles or flocculent cytoplasmic inclusions. When these\nare present, or in cases of difficult eosinophilic renal tumors, staining for SDHB is recommended. For tumours\nwithout adverse pathologic features (i.e. high nuclear grade, coagulative necrosis, or sarcomatoid differentiation)\nexcision alone may be a reasonable option, with the addition of regular surveillance for PC and PGLs in those\nfound to harbor germline SDH mutations.
Loading....