[Pheochromocytoma: update on diagnosis and therapy]

Abstract

Pheochromocytomas (P) are rare catecholamine producing neuroendocrine tumors originating from the chromaffin cells of the adrenal medulla or in 15 % of cases from extra adrenal chromaffin tissue and termed paragangliomas (PGL). Because of secretion of the catecholamines - adrenaline, noradrenaline and dopamine - the tumors are dangerous with a risk of life threating hypertensive crises. Measurements of plasma metanephrine, normetanephrine and methoxytyramine by liquid chromatography with tandem mass spectrometry provides the most accurate and precise method for biochemical diagnosis. Approximately 30-40 % of the tumors have a hereditary background due to mutations of 11 known susceptibility genes, with identification facilitated by targeted genetic testing according to clinical presentation. Apart from syndrome-dependent clinical stigmata, other hints to an underlying mutation can be provided by biochemical profiles of the catecholamine metabolites, tumor location, patient age and presence of metastatic disease. Surgery with minimal invasive procedures is the recommended therapeutic way after pretreatment with an alpha receptor blocking medication.