Author/Editor		Kuroda, Naoto; Yorita, Kenji; Nagasaki, Makoto; Harada, Yuji; Ohe, Chisato; Jeruc, Jera; Raspollini, Maria Rosaria; Michal, Michal; Hes, Ondrej; Amin, Mahul B.
Title		Review of succinate dehydrogenase-deficient renal cell carcinoma with focus on clinical and pathobiological aspects
Type		članek
Vol. and No.		Letnik 67, št. 1
Publication year		2016
Volume		str. 3-7
ISSN		1233-9687 - Polish journal of pathology : official journal of the Polish Society of Pathologists
Language		eng
Abstract		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.
Keywords		renal cell carcinoma tumors molecular genetic analyses karcinom ledvičnih celic tumorji molekularno genetska analiza