A new syndromic association: pituitary adenomas, paragangliomas and pheochromocytomas

Thursday, October 11, 2012 — Poster Session III
10:00 a.m. – Noon	Natcher Conference Center, Building 45	NICHD	ENDOC-17

Authors

• P Xekouki
• A.S Mastroyiannis
• D Avgeropoulos
• M.L Sierra
• V Martucci
• K Pacak
• C.A Stratakis

Abstract

We recently reported a potentially new syndromic association, that of a GH-secreting pituitary adenoma and pheochromocytoma/paraganglioma (PHEO/PGL). We interrogated our International Registry of sporadic pituitary adenomas, as well as adult and pediatric syndromic pituitary tumors for the occurrence of pituitary adenomas with PHEO/PGL. A total of 161 cases were investigated: 16 were identified as familial and 145 as sporadic. Among the syndromic cases 4 had Cushing’s disease and 12 GH and PRL-secreting adenomas. Among the sporadic cases 117 had Cushing’s disease, 8 GH-secreting adenomas, 5 prolactinomas, 5 non-secreting tumors, 1 craniopharyngioma and 9 hormonal syndromes and no obvious tumor. Out of the 145 sporadic cases 2 presented with the new syndromic association. Mutation in SDHA was detected in one of them. Among the syndromic cases 1 presented with the new syndromic association and a SDHD mutation and the rest were due to unknown other mutations (AIP and MEN1 genes). We conclude that there might be an association of pituitary tumors and PHEOs/PGLs that may constitute a new syndrome. However, it is rare among sporadic pituitary adenomas, although functional SDHx variants may play a role there, too. This discovery may lead to new therapies targeting mitochondrial oxidation in aggressive pituitary tumors.

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