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What causes pheochromocytoma?

Pheochromocytoma can be a genetic condition inherited from a parent, or it can show up in someone with no family history of the condition.

Approximately one third of pheochromocytoma cases occur when patients inherit a mutated gene from their parents.1 Studies have linked several genes to the disease, but researchers are not sure how these genes contribute to the formation of this tumor.2

The remaining two thirds of cases are spontaneous and are not associated with a family history. However, genetic inheritance may play a role in the development of the disease through unknown genes. For example, in one study, a significant percentage of patients (7.5%–27%) with sporadic pheochromocytoma had genetic mutations that have been linked to other family-inherited syndromes.3

Citations

  1. Eunice Kennedy Shriver National Institute of Child Health and Human Development. The proper diagnosis, treatment, genetics, and research of pheochromocytoma and paraganglioma: Genetic screening. Retrieved March 26, 2012, from https://science.nichd.nih.gov/confluence/display/pheo/Genetic+Screening
  2. Karasek, D., Shah, U., Frysak, Z., Stratakis, C., & Pacak, K. (2013). An update on the genetics of pheochromocytoma. Journal of Human Hypertension, 27, 141–147.
  3. Pacak, K., Lenders, J. W. M., & Eisenhofer, G. (2007). Pheochromocytoma: diagnosis, localization, and treatment. Malden, MA: Wiley-Blackwell.
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