Article
Adrenocortical carcinoma and succinate dehydrogenase gene mutations: an observational case series.
European journal of endocrinology - 1 Nov 2017
Else Tobias, Lerario Antonio Marcondes, Everett Jessica, Haymon Lori, Wham Deborah, Mullane Michael, Wilson Tremika LeShan, Rainville Irene, Rana Huma, Worth Andrew J, Snyder Nathaniel W, Blair Ian A, McKay Rana, Kilbridge Kerry, Hammer Gary, Barletta Justine, Vaidya Anand
Abstract excerpt
OBJECTIVE: Germline loss-of-function mutations in succinate dehydrogenase (SDHx) genes results in rare tumor syndromes that include pheochromocytoma, paraganglioma, and others. Here we report a case series of patients with adrenocortical carcinoma (ACC) that harbor SDHx mutations. PATIENTS AND RESULTS: We report four unrelated patients with ACC and SDHx mutations. All cases presented with Cushing syndrome and...
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