20% of pheochromocytomas is associated with von Hippel-Lindau disease. PCC occur in 7–20% of families with VHL

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

van Nederveen FH, Gaal J, Favier J, et al. An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis. Lancet Oncol. 2009; 10:764–771
  • pheochromocytoma.txt
  • Last modified: 2020/03/29 12:21
  • by administrador