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succinate dehydrogenase-deficient paraganglioma

Wednesday 26 June 2013

SDH-deficient paraganglioma

A significant number of patients with paragangliomas harbor germline mutations in one of the succinate dehydrogenase (SDH) genes (SDHA, B, C, or D).

Tumors with mutations in SDH genes can be identified using immunohistochemistry.

Loss of SDHB staining is seen in tumors with a mutation in any one of the SDH genes, whereas loss of both SDHB and SDHA expression is seen only in the context of an SDHA mutation.

Identifying an SDH-deficient tumor can be prognostically significant, as tumors with SDHB mutations are more likely to pursue a malignant course.

Although the rate of SDH deficiency in paragangliomas in general is known to be approximately 30%.

References

- Identification of Succinate Dehydrogenase-deficient Bladder Paragangliomas. Mason EF, Sadow PM, Wagner AJ, Remillard SP, Flood TA, Belanger EC, Hornick JL, Barletta JA. Am J Surg Pathol. 2013 Jun 20. PMID: #23797725#