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Pheochromocytoma arises from [[chromaffin cells]], found in [[adrenal medulla]] which secrete [[adrenaline]], [[noradrenaline]], and [[Dopamine|dopamine.]] Majority of pheochromocytomas are sporadic (50-60 percent), others are familial. Familial forms can be sub-divided into two major clusters based on [[genes]] causing the disease. Cluster 1 tumors are [[Norepinephrine|noradrenergic]] and cluster 2 tumors are [[adrenergic]]. Familial pheochromocytoma may be caused by a [[mutation]] of either ''[[SDHD]],'' ''[[VHL]]'', ''[[SDHB]],'' ''[[RET proto-oncogene|RET]]'', ''[[NF1]]'' [[genes]]. | Pheochromocytoma arises from [[chromaffin cells]], found in [[adrenal medulla]] which secrete [[adrenaline]], [[noradrenaline]], and [[Dopamine|dopamine.]] Majority of pheochromocytomas are sporadic (50-60 percent), others are familial. Familial forms can be sub-divided into two major clusters based on [[genes]] causing the disease. Cluster 1 tumors are [[Norepinephrine|noradrenergic]] and cluster 2 tumors are [[adrenergic]]. Familial pheochromocytoma may be caused by a [[mutation]] of either ''[[SDHD]],'' ''[[VHL]]'', ''[[SDHB]],'' ''[[RET proto-oncogene|RET]]'', ''[[NF1]]'' [[genes]]. | ||
==Causes== | ==Causes== | ||
===Life-threatening Causes=== | |||
* Pheochromocytoma due to any cause may be life-threatening which may result in death. | |||
===Common Causes=== | |||
* In most cases of pheochromocytoma, the cause is unknown. | |||
* Sporadic form is more common | |||
===Less Common Causes=== | |||
Less common causes of pheochromocytoma include: | |||
* Familial form | |||
* Associated with syndromes- Neurofibromatosis 1, Von Hippel-Lindau disease, Multiple Endocrine Neoplasia 2A and 2B | |||
===Genetic Causes=== | |||
*Pheochromocytoma is caused by a mutation in the following genes. | |||
* Majority of pheochromocytomas are sporadic (50-60 percent), others are familial. | * Majority of pheochromocytomas are sporadic (50-60 percent), others are familial. | ||
* Approximately 10 percent of pheochromocytoma [[Tumor|tumors]] are [[malignant]]. Common sites of spread are the base of [[skull]], [[head]], and [[neck]]. | * Approximately 10 percent of pheochromocytoma [[Tumor|tumors]] are [[malignant]]. Common sites of spread are the base of [[skull]], [[head]], and [[neck]]. | ||
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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] Mohammed Abdelwahed M.D[3]
Overview
Pheochromocytoma arises from chromaffin cells, found in adrenal medulla which secrete adrenaline, noradrenaline, and dopamine. Majority of pheochromocytomas are sporadic (50-60 percent), others are familial. Familial forms can be sub-divided into two major clusters based on genes causing the disease. Cluster 1 tumors are noradrenergic and cluster 2 tumors are adrenergic. Familial pheochromocytoma may be caused by a mutation of either SDHD, VHL, SDHB, RET, NF1 genes.
Causes
Life-threatening Causes
- Pheochromocytoma due to any cause may be life-threatening which may result in death.
Common Causes
- In most cases of pheochromocytoma, the cause is unknown.
- Sporadic form is more common
Less Common Causes
Less common causes of pheochromocytoma include:
- Familial form
- Associated with syndromes- Neurofibromatosis 1, Von Hippel-Lindau disease, Multiple Endocrine Neoplasia 2A and 2B
Genetic Causes
- Pheochromocytoma is caused by a mutation in the following genes.
- Majority of pheochromocytomas are sporadic (50-60 percent), others are familial.
- Approximately 10 percent of pheochromocytoma tumors are malignant. Common sites of spread are the base of skull, head, and neck.
- Familial pheochromocytoma may be caused by a mutation of either SDHD, VHL, SDHB, RET, NF1 genes. Familial causes can be sub-divided into two major clusters based on genes causing the disease.[1]
| Familial pheochromocytoma | |
|---|---|
| Cluster 1 (Noradrenergic) | Cluster 2 (Adrenergic) |
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References
- ↑ King KS, Pacak K (2014). "Familial pheochromocytomas and paragangliomas". Mol Cell Endocrinol. 386 (1–2): 92–100. doi:10.1016/j.mce.2013.07.032. PMC 3917973. PMID 23933153.