Pheochromocytoma causes
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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
The most common cause of pheochromocytoma is sporadic mutations. Less common causes of pheochromocytoma include familial associations and association with syndromes. 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 of the familial type may be caused by a mutation in the following genes:
- RET gene (MEN 2A, MEN 2B syndromes)
- NF1 gene
- VHL gene (VHL disease)
- SDHD, SDHB, and SDHC genes of the mitochondrial complex [1]
- SDHA, SDHAF2, TMEM127 (transmembrane protein 127), MAX (myc-associated factor X), FH (fumarate hydratase), PDH1, PDH2 (pyruvate dehydrogenase), HIF1alpha (hypoxia-inducible factor), MDH2 (malate dehydrogenase), and KIF1Bß (kinesin family member) genes. [2]
Pheochromocytoma and paragangliomas (PPGL) susceptibility genes can be classified into the following clusters- [3] [4] [5]
- Cluster 1
- Mutations involving in overexpression of vascular endothelial growth factor (VEGF) as a result of pseudohypoxia
- Impaired DNA methylation leading to increased vascularization
- Cluster 2
- Activating mutations of Wnt-signaling pathway including Wnt receptor signaling and Hedgehog signaling.
- Mutations of CSDE1 (Cold shock domain containing E1) and MAML3 (Mastermind like transcriptional coactivator 3) genes7.
- Cluster 3
- Abnormal activation of kinase signaling pathways like PI3Kinase/AKT, RAS/RAF/ERK, and mTOR pathways.
Causes by Organ System
| Cardiovascular | No underlying causes |
| Chemical/Poisoning | No underlying causes |
| Dental | No underlying causes |
| Dermatologic | No underlying causes |
| Drug Side Effect | No underlying causes |
| Ear Nose Throat | No underlying causes |
| Endocrine | No underlying causes |
| Environmental | No underlying causes |
| Gastroenterologic | No underlying causes |
| Genetic | No underlying causes |
| Hematologic | No underlying causes |
| Iatrogenic | No underlying causes |
| Infectious Disease | No underlying causes |
| Musculoskeletal/Orthopedic | No underlying causes |
| Neurologic | No underlying causes |
| Nutritional/Metabolic | No underlying causes |
| Obstetric/Gynecologic | No underlying causes |
| Oncologic | No underlying causes |
| Ophthalmologic | No underlying causes |
| Overdose/Toxicity | No underlying causes |
| Psychiatric | No underlying causes |
| Pulmonary | No underlying causes |
| Renal/Electrolyte | No underlying causes |
| Rheumatology/Immunology/Allergy | No underlying causes |
| Sexual | No underlying causes |
| Trauma | No underlying causes |
| Urologic | No underlying causes |
| Miscellaneous | No underlying causes |
Causes in Alphabetical Order
List of causes of the disease in alphabetical order:
- Familial inheritance
- FH (fumarate hydratase) gene
- HIF1alpha (hypoxia-inducible factor) gene
- KIF1Bß (kinesin family member) gene
- MAX (myc-associated factor X)
- MDH2 (malate dehydrogenase) gene
- NF1 gene- Neurofibromatosis 1 (NF1)
- PDH1, PDH2 (pyruvate dehydrogenase) gene
- RET gene- Multiple endocrine neoplasia (MEN 2A, MEN 2B)
- SDHA gene
- SDHB gene
- SDHC gene
- SDHD gene
- SDHAF2 gene
- Sporadic mutations
- TMEM127 gene
- Unknown origin
- VHL gene- Von-Hippel Lindau disease (VHL)
References
- ↑ Gimm O (2005). "Pheochromocytoma-associated syndromes: genes, proteins and functions of RET, VHL and SDHx". Fam Cancer. 4 (1): 17–23. doi:10.1007/s10689-004-5740-1. PMID 15883706.
- ↑ Jameson, J (2017). Harrison's Principles of Internal Medicine 19th Edition and Harrison's Manual of Medicine 19th Edition VAL PAK. New York: McGraw-Hill Medical. ISBN 978-1260128857.
- ↑ Jameson, J (2017). Harrison's Principles of Internal Medicine 19th Edition and Harrison's Manual of Medicine 19th Edition VAL PAK. New York: McGraw-Hill Medical. ISBN 978-1260128857.
- ↑ Eisenhofer G, Huynh TT, Pacak K, Brouwers FM, Walther MM, Linehan WM; et al. (2004). "Distinct gene expression profiles in norepinephrine- and epinephrine-producing hereditary and sporadic pheochromocytomas: activation of hypoxia-driven angiogenic pathways in von Hippel-Lindau syndrome". Endocr Relat Cancer. 11 (4): 897–911. doi:10.1677/erc.1.00838. PMID 15613462.
- ↑ Lam AK (2017). "Update on Adrenal Tumours in 2017 World Health Organization (WHO) of Endocrine Tumours". Endocr Pathol. 28 (3): 213–227. doi:10.1007/s12022-017-9484-5. PMID 28477311.