Article
SDHx mutation and pituitary adenoma: can in vivo 1H-MR spectroscopy unravel the link?
Endocrine-related cancer - 1 Feb 2023
Branzoli Francesca, Salgues Betty, Marjańska Małgorzata, Laloi-Michelin Marie, Herman Philippe, Le Collen Lauriane, Delemer Brigitte, Riancho Julien, Kuhn Emmanuelle, Jublanc Christel, Burnichon Nelly, Amar Laurence, Favier Judith, Gimenez-Roqueplo Anne-Paule, Buffet Alexandre, Lussey-Lepoutre Charlotte
Abstract excerpt
Germline mutations in genes encoding succinate dehydrogenase (SDH) are frequently involved in pheochromocytoma/paraganglioma (PPGL) development and were implicated in patients with the '3PAs' syndrome (associating pituitary adenoma (PA) and PPGL) or isolated PA. However, the causality link between SDHx mutation and PA remains difficult to establish, and in vivo tools for detecting hallmarks of SDH deficiency are...
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