Review of succinate dehydrogenase-deficient renal cell carcinoma with focus on clinical and pathobiological aspects

Naoto Kuroda, Kenji Yorita, Makoto Nagasaki, Yuji Harada, Chisato Ohe, Jera Jeruc, Maria Rosaria Raspollini, Michal Michal, Ondrej Hes, Mahul Amin

Research output: Contribution to journalReview article

15 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)3-7
Number of pages5
JournalPolish Journal of Pathology
Volume67
Issue number1
DOIs
StatePublished - Jan 1 2016
Externally publishedYes

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Succinate Dehydrogenase
Renal Cell Carcinoma
Neoplasms
Germ-Line Mutation
Kidney
Paraganglioma
Gastrointestinal Stromal Tumors
Protein Subunits
Pheochromocytoma
Enzymes
Genes
Molecular Biology
Mitochondria
Cytoplasm
Necrosis
Carcinoma
Mutation

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine

Cite this

Review of succinate dehydrogenase-deficient renal cell carcinoma with focus on clinical and pathobiological aspects. / Kuroda, Naoto; Yorita, Kenji; Nagasaki, Makoto; Harada, Yuji; Ohe, Chisato; Jeruc, Jera; Raspollini, Maria Rosaria; Michal, Michal; Hes, Ondrej; Amin, Mahul.

In: Polish Journal of Pathology, Vol. 67, No. 1, 01.01.2016, p. 3-7.

Research output: Contribution to journalReview article

Kuroda, N, Yorita, K, Nagasaki, M, Harada, Y, Ohe, C, Jeruc, J, Raspollini, MR, Michal, M, Hes, O & Amin, M 2016, 'Review of succinate dehydrogenase-deficient renal cell carcinoma with focus on clinical and pathobiological aspects', Polish Journal of Pathology, vol. 67, no. 1, pp. 3-7. https://doi.org/10.5114/pjp.2016.59227
Kuroda, Naoto ; Yorita, Kenji ; Nagasaki, Makoto ; Harada, Yuji ; Ohe, Chisato ; Jeruc, Jera ; Raspollini, Maria Rosaria ; Michal, Michal ; Hes, Ondrej ; Amin, Mahul. / Review of succinate dehydrogenase-deficient renal cell carcinoma with focus on clinical and pathobiological aspects. In: Polish Journal of Pathology. 2016 ; Vol. 67, No. 1. pp. 3-7.
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