Pheochromocytoma causes

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ahmad Al Maradni, M.D. [2]

Overview

Pheochromocytoma develops in called chromaffin cells, found in adrenal medulla which secrete adrenaline, noradrenaline.

Familial pheochromocytoma may be caused by a mutation of either VHL, RET, NF1, SDHB or SDHD genes.

Causes

• Pheochromocytoma develops in called chromaffin cells, found in adrenal medulla. Chromaffin cells typically secrete adrenaline, noradrenaline and dopamine. These hormones are sympathetic stimulants. Pheochromocytoma results in the irregular and excessive release of these hormones causing hypertension and tachycardia. Approximately 10% are located in chromaffin tissue outside of the adrenal gland, The most common extradrenal locations are the abdomen and thorax
• Approximately 10% of tumors are malignant. Commonest sites of spread are base of skull, head and neck.
• Genetic base of pheochromocytoma depends on 2 clusters: cluster 1 tumors are noradrenergic. Cluster 2 tumors are adrenergic.^[3]

Cluster 1	Cluster 2
Succinate dehydrogenase (SDH) subunit genes Von Hippel-Lindau (VHL) disease Fumarate hydratase gene mutations	Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Neurofibromatosis type 1 (NF1)