Recent advances in genetics, diagnosis, localization, and treatment of pheochromocytoma

Pheochromocytoma is a rare but important tumor of chromaffin cells that is frequently considered in the evaluation of hypertension, arrhythmias, or pa nic disorder and in the follow-up of patients with particular genetic disea ses. This report provides an update about the genetics, neurochemical diagn osis, localization by imaging, and surgical management of pheochromocytoma. Specific mutations of the RET proto-oncogene cause familial predisposition to pheochromocytoma in multiple endocrine neoplasia type II, and mutations in the von Hippel-Lindau tumor suppressor gene cause familial disposition to pheochromocytoma in von Hippel-Lindau disease. Recent findings demonstra ting extraordinarily high sensitivity of plasma levels of metanephrines for detecting pheochromocytoma have led to an algorithm for clinical diagnosti c steps. Nuclear imaging approaches, such as (123)l-metaiodobenzylguanidine scintigraphy and 6-[F-18]fluorodopamine positron emission tomography, enha nce both diagnosis and localization of the tumor, as described in an algori thm for patients with positive biochemical test results. Since pheochromocy toma is often benign, surgical resection by laparoscopic adrenalectomy can be curative. Areas requiring further work include determining appropriate f ollow-up of patients with familial pheochromocytoma, elucidating the bases for phenotypic differences, improving both specificity and sensitivity of b iochemical tests, optimizing cost-effectiveness of diagnostic imaging, and testing the risk for tumor recurrence after partial adrenalectomy.