Paraganglioma & Pheochromocytoma

Paraganglioma and Pheochromocytoma are catecholamine-producing tumors (predominantly norepinephrine, epinephrine, and dopamine alone or in combination) that can lead to life-threatening complications including myocardial infarction, heart failure, stroke, and death. Pheochromocytomas are tumors of the adrenal medulla, while paragangliomas originate from the chromaffin tissue in the extra-adrenal autonomic ganglia [1]. The tumor is usually unilateral, and in some cases is associated to syndromes such as multiple-endocrine neoplasia II, neurofibromatosis, and Von Hippel-Lindau disease [2]. Germline mutations of susceptibility genes associated with this disease have been recently discovered, particularly in the genes responsible for the succinate dehydrogenase complex, SDHB, SDHC, SDHD, SDHA and SDHAF2, as well as mutations in TMEM127, MAX, KIF1B beta, EGLN1/PHD2, and HIF2A [1,2]. Less than 5% are malignant tumors, and surgical removal often offers a definite cure.