Treatment of pheochromocytomas and paragangliomas: genetic approach?

Abstract

Pheochromocytomas (PHEOs) and paragangliomas (PGLs) are neuroendocrine tumors derived from the chromaffin tissue of the adrenal medulla or from extra-adrenal sympathetic and parasympathetic paraganglia. These tumors affect one in 2500–6500 people, with 500–1600 patients diagnosed annually in the USA. Its real incidence is likely to be much higher, and many patients may die undiagnosed. It is a rare cause of secondary hypertension, with an incidence of 0.1–0.6%. PHEOs are more common than PGLs, and 5–7% is related to hormonal secretion. The average age of diagnosis is 43 years, but 10–20% of PHEO/PGL patients are children, and the tumors are generally associated with genetic conditions. The worldwide consensus is that people with PHEOs/PGLs should undergo a mandatory genetic investigation, especially with multiple injuries and those who are younger. Although many PHEOs are sporadic and benign, approximately 30% of familial tumor cases have been identified. Multiple endocrine neoplasia type 2, von Hippel–Li...