Summary of Pheochromocytoma
Transcript for Pheochromocytoma
Content Reviewers:Rishi Desai, MD, MPH, Yifan Xiao, MD, Victoria Cumberbatch, Alex Aranda, Jake Ryan, Harry Delaney
In pheochromocytoma, pheo- means dark, chromo- refers to color, cyto- refers to a cell and -oma means tumor.
So a pheochromocytoma is a rare adrenal gland tumor where the cells darken when they form tumors.
Now, there are two adrenal glands, one above each kidney, and each one has an outer layer called the cortex and an inner layer called the medulla.
In the medulla, there are cells called chromaffin cells and their job is to make hormones called catecholamines.
Normally, the chromaffin cells in the adrenal gland secrete epinephrine and norepinephrine into the blood when something scary happens - like someone saying BOOM!
The epinephrine and norepinephrine bind to alpha and beta receptors in various tissues throughout our body and cause an increase in cardiac output, increased blood pressure, dilated pupils, increased blood flow to skeletal muscles, and increased blood sugar.
Pheochromocytomas are tumors that form when these chromaffin cells start to divide uncontrollably.
They typically form in one of the adrenal glands, but rarely can be in both and sometimes can even develop in other parts of the body where chromaffin cells are found like the carotid arteries in the neck, the bladder, and the abdominal aorta.
Most pheochromocytomas arise sporadically, but some are associated with an inherited syndrome.
One of these is multiple endocrine neoplasias type 2A and type 2B, where pheochromocytoma is caused by a mutation in the RET gene, which is a protooncogene that encodes for proteins that promote cell growth and division.
When the RET gene mutates, it becomes an oncogene that causes the cells to divide constantly.
Another disease associated with pheochromocytomas is Von Hippel-Lindau disease, which develops when there’s a mutation in the VHL gene which codes for the von Hippel-Lindau tumor suppressor protein.
Tumor suppressor proteins normally inhibit cell growth and division and mutations result in uncontrolled cell proliferation leading to tumors.
A third disease is neurofibromatosis type 1, which is caused by a mutation in the gene NF1 that encodes for another tumor suppressor protein called neurofibromin, and the mechanism here is similar to Von Hippel-Lindau disease.
Once pheochromocytomas develop, they cause problems by releasing too many catecholamines into the blood.
The catecholamine release is unregulated and could happen continuously or at random times.