TY - JOUR JO - Polish Journal of Pathology SN - 1233-9687 VL - 67 IS - 1 PY - 2016 ID - Kuroda2016 TI - Review of succinate dehydrogenase-deficient renal cell carcinoma with focus on clinical and pathobiological aspects AB - Succinate dehydrogenase (SDH)-deficient renal cell carcinoma (RCC) was first identified in 2004 and has been integrated into the 2016 WHO classification of RCC. Succinate dehydrogenase (SDH) is an enzyme complex composed of four protein subunits (SDHA, SDHB, SDHC and SDHD). The tumor which presents this enzyme mutation accounts for 0.05 to 0.2% of all renal carcinomas. Multiple tumors may occur in approximately 30% of affected patients. SDHB-deficient RCC is the most frequent, and the tumor histologically consists of cuboidal cells with eosinophilic cytoplasm, vacuolization, flocculent intracytoplasmic inclusion and indistinct cell borders. Ultrastructurally, the tumor contains abundant mitochondria. Immunohistochemically, tumor cells are positive for SDHA, but negative for SDHB in SDHB-, SDHC- and SDHD-deficient RCCs. However, SDHA-deficient RCC shows negativity for both SDHA and SDHB. In molecular genetic analyses, a germline mutation in the SDHB , SDHC or SDHD gene (in keeping with most patients having germline mutations in an SDH gene) has been identified in patients with or without a family history of renal tumors, paraganglioma/pheochromocytoma or gastrointestinal stromal tumor. While most tumors are low grade, some tumors may behave in an aggressive fashion, particularly if they are high nuclear grade, and have coagulative necrosis or sarcomatoid differentiation. AU - Kuroda, Naoto AU - Yorita, Kenji AU - Nagasaki, Makoto AU - Harada, Yuji AU - Ohe, Chisato AU - Jeruc, Jera AU - Raspollini, Maria Rosaria AU - Michal, Michal AU - Hes, Ondrej AU - Amin, Mahul B. SP - 3 EP - 7 DA - 2016 DO - 10.5114/pjp.2016.59227 UR - http://dx.doi.org/10.5114/pjp.2016.59227 ER -