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SDHA-deficient renal cell carcinoma

Thursday 5 March 2015

SDHA-associated renal cell carcinoma

Succinate dehydrogenase (SDH)-deficient renal cell carcinoma (RCC) is an emerging provisional entity included in the 2013 International Society of Urological Pathology Vancouver Classification.

Most genomic alterations in patients with SDH-deficient RCCs involve the SDHB subunit, and the associated renal tumors have loss of immunohistochemical SDHB expression and distinctive morphologic features.

Renal tumors less commonly possess genomic alterations involving the SDHC and SDHD subunits, but no SDHA alterations have as yet been described.

In a case, the homozygous deletion led to the loss of SDHA and SDHB protein expression. Histologically, the tumor had a mixed pattern of high-grade papillary and collecting duct carcinoma and distinctive pale eosinophilic cytoplasmic inclusions similar to those described in SDHB-deficient RCC. This report identifies SDHA inactivation in RCC. (25724004)

See also

- TCA cycle (citric acid cycle)


- A Novel SDHA-deficient Renal Cell Carcinoma Revealed by Comprehensive Genomic Profiling. Yakirevich E, Ali SM, Mega A, McMahon C, Brodsky AS, Ross JS, Allen J, Elvin JA, Safran H, Resnick MB. Am J Surg Pathol. 2015 Feb 25. PMID: 25724004