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A phaeochromocytoma (pheochromocytoma in the US) 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 [1] and secretes excessive amounts of catecholamines, usually epinephrine and norepinephrine.[2] 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.
Traditionally it is known as the “10% tumor”:
Seen in between 2-8 in 1,000,000, with approximately 1000 cases diagnosed in United States yearly. Mostly occurs in young or middle age adults, though presents earlier in people with multiple endocrine neoplasia.
Up to 25% of pheochromocytomas may be familial. Mutations of the genes VHL, RET, NF1, SDHB and SDHD are all known to cause familial pheochromocytoma/extra-adrenal paraganglioma.
Pheochromocytoma is a tumor of the multiple endocrine neoplasia syndrome, type IIA (also known as MEN IIA) and type IIB MEN IIB. The other component neoplasms of that syndrome include parathyroid adenomas, and medullary thyroid cancer. Mutations in the autosomal RET proto-oncogene drives these malignancies [3]. Common mutations in the RET oncogene may also account for medullary sponge kidney as well. [4]
Pheochromocytoma linked to MEN II can be caused by RET oncogene mutations. Both syndromes are characterized by pheochromocytoma as well as thyroid cancer (thyroid medullary carcinoma). MEN IIA also presents with hyperparathyroidism, while MEN IIB also presents with mucosal neuroma. It is now postulated that Lincoln suffered from MEN IIB, rather than Marfan’s syndrome as previously thought, though this is uncertain.
The signs and symptoms of a pheochromocytoma are those of sympathetic nervous system hyperactivity, including:
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