MONOGENETIC HYPERTENSION AND PHEOCHROMOCYTOMA

Hypertension attributable to pheochromocytoma is a very attractive mod el for the elucidation of the pathogenesis of hypertension, Sixteen di fferent point mutations in the RET proto-oncogene and 30 mutations in the Von Hippel-Lindau (VHL) tumor suppressor gene have been identified so far associated with expression of pheochromocytoma, Each of these mutations initiates either the syndrome of multiple endocrine neoplasi a type 2 (MEN 2) (MEN 2A and MEN 2B) or the VHL disease, Certain mutat ions in both genes are associated with the presence of pheochromocytom a. In general, these pheochromocytomas produce catecholamines that res ult in hypertension, Therefore, analysis for germline mutations in the se genes are of practical value, because susceptibility to these disea ses can be predicted in as yet clinically unaffected relatives. (C) 19 96 by the National Foundation, Inc.