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SDH-associated pituitary adenoma

Friday 26 December 2014

Succinate dehydrogenase deficiency in pituitary adenoma; SDH-deficient pituitary adenoma

Germline mutations in the succinate dehydrogenase genes (SDHA, SDHB, SDHC, and SDHD) are established as causes of pheochromocytoma/paraganglioma, renal carcinoma, and gastrointestinal stromal tumor. It has recently been suggested that pituitary adenomas may also be a component of this syndrome.

Pathogenic SDH mutation may occur in pituitary adenomas and can be identified by immunohistochemistry, but it appears to be a very rare event and can occur in the absence of germline mutation.

SDH-deficient pituitary adenomas may be larger and more likely to produce prolactin than other pituitary adenomas. Unless suggested by family history and physical examination, it is difficult to justify screening for SDH mutations in pituitary adenomas.

Surveillance programs for patients with SDH mutation may be tailored to include the possibility of pituitary neoplasia; however, this is likely to be a low-yield strategy.

Open references

- Succinate dehydrogenase deficiency is rare in pituitary adenomas. Gill AJ, Toon CW, Clarkson A, Sioson L, Chou A, Winship I, Robinson BG, Benn DE, Clifton-Bligh RJ, Dwight T. Am J Surg Pathol. 2014 Apr;38(4):560-6. doi : 10.1097/PAS.0000000000000149 PMID: 24625421 [Free PMC]