Pheochromocytoma/paraganglioma: clinical and genetic aspects

Abstract

The present retrospective descriptive and analytical study included 167 patients divided into three groups. Two groups were comprised of the patients with genetically predetermined pheochromocytoma (type 2 MEN syndrome and von Hippel-Lindau disease respectively), the third croup consisted of the patients presenting with sporadic pheochromocytoma. The median age at which pheochromocytoma was diagnosed was 25 years in group 1, 18 years in group 2, and 47 years in group 3. Adrenalin-type secretion was predominated in group 1 in contrast to the noradrenalin-type and mixed-type secretion in the patients of groups 2 and 3 respectively. The patients of group 1 showed positive correlation between the tumour size and excretion of methylated catecholamines. 82% of these patients exhibited bilateral adrenal lesions and 58% suffered multifocal lesions; no cases of extra-adrenal localization of the tumour were documented. The extra-adrenal localization of pheochromocytomas was observed in 16.4% of the patients in group 2, where 6.6% of the patients had metastases. No metastases of pheochromocytoma were found in the patients of groups 1 and 3. It is concluded that the patients under the age of 40 presenting with bilateral and multicentral pheochromocytoma with the aggravated familial history need the genetic predetermination of the disease to be excluded taking into account syndromal symptoms. Examination for the detection of type 2 MEN is not required in the patients showing isolated normetanephrin excretion. Nor is the search for metastases of pheochromocytoma and its extra-adrenal localization is necessary in the patients presenting with type 2 MEN syndrome and/or exhibiting isolated metanephrin excretion.