Recent Advances in the Genetics of Pheochromocytomas and Paragangliomas

Paragangliomas and pheochromocytomas are rare neuroendocrine tumors, which secrete catecholamines, with the same embryological origin from the neural crest cells. Pheochromocytomas develop from the adrenal medulla, while paragangliomas are extraadrenal tumors, evolving from the autonomic sympathetic and parasympathetic nervous chains. In the last 10 years, molecular medicine has discovered novelties in the understanding of genetics of these tumors. Although the majority of these tumors occur sporadically, recent medical discoveries have indicated that approximately 30-40% of these tumors are associated with an inherited mutation. In addition to this, developments in molecular pathology of pheochromocytomas and paragangliomas will provide the key to target specifi c cellular markers, assuring a personalised therapy. In this article we have reviewed the current medical literature, in order to summarise the most important aspects of genetics and clinical features of pheochromocytomas and paragangliomas.