The Journal of Bucharest College of Physicians and the Romanian Academy of Medical Sciences

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Recent Advances in the Genetics of Pheochromocytomas and Paragangliomas

2016-03

Alexandra Mirica, Ioana Anca Badarau, Radu Mirica, Sorin Paun, Catalina Poiana, Diana Loreta Paun

Pheochromocytomas (Pheos) and paragangliomas (Pgls) are rare neuroendocrine tumors, with the same embriologic origin. Based on WHO classification, chromaffin tumors of the adrenal medulla are called Pheos, whereas tumors arising from extra-adrenal chromaffi n cells, along the autonomous nervous chains, are named Pgls [1]. Furthermore, there are two types of Pgls according to their homologous nervous chain: sympathetic and parasympathetic tumors. Sympathetic Pgls are developing from the pre- and paravertebral sympathetic ganglia (ex: Pgls of the thorax, mediastinum, abdomen) and from the connective tissue within the pelvic organs (ex:urinary bladder Pgl). They release dopamine or norepinephrine (NE) because they lack phenylethanolamine N-methyltransferase (PNMT), the enzyme in charge of transforming NE into epinephrine (E), that is specific to adrenal medulla. [...]

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