Pheochromocytoma
20% of pheochromocytomas is associated with von Hippel-Lindau disease. PCC occur in 7–20% of families with VHL
General information
Located in the adrenal gland. Maybe sporadic, or as part of a familial syndrome (von Hippel-Lindau disease, MEN 2A & 2B, & neurofibromatosis). Consider genetic testing if age at diagnosis is < 50 years for mutations of VHL and other genetic abnormalities (RET, SDHS, SDHB, SDHC 1)).
A pheochromocytoma (from Greek phaios “dark”, chroma “color”, kytos “cell”, -oma “tumor”) or phaeochromocytoma (PCC) is a neuroendocrine tumor of the medulla of the adrenal glands (originating in the chromaffin cells), or extra-adrenal chromaffin tissue that failed to involute after birth and secretes high amounts of catecholamines, mostly norepinephrine, plus epinephrine to a lesser extent.
Extra-adrenal paragangliomas (often described as extra-adrenal pheochromocytomas) are closely related, though less common, tumors that originate in the ganglia of the sympathetic nervous system and are named based upon the primary anatomical site of origin