What is the genetic etiology of pheochromocytomas?

Updated: Aug 10, 2018
  • Author: Michael A Blake, MBBCh, MRCPI, FRCR; Chief Editor: George T Griffing, MD  more...
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Answer

Although the majority of pheochromocytomas are sporadic, approximately 30% result from inherited mutations. To date, 10 genes associated with pheochromocytoma and paraganglioma have been identified. [5]  Familial syndromes associated with pheochromocytomas include MEN 2A and 2B, neurofibromatosis (von Recklinghausen disease), and VHL disease, as well as others.


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