Current Hypertension Reports

, Volume 12, Issue 6, pp 456-464

First online:

Genetic Testing for Pheochromocytoma

  • David KarasekAffiliated with3rd Department of Internal Medicine, University Hospital Olomouc
  • , Zdenek FrysakAffiliated with3rd Department of Internal Medicine, University Hospital Olomouc
  • , Karel PacakAffiliated withReproductive and Adult Endocrinology Program, NICHD, NIH Email author 

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Pheochromocytomas (PHEOs) and paragangliomas (PGLs) are rare, catecholamine-producing tumors that are usually sporadic. However, about 30% of these tumors have been identified as being of inherited origin. To date, nine genes have been confirmed as participating in PHEO or PGL tumorigenesis. Germline mutations were found in 100% of syndromic cases and in about 90% of patients with positive familial history. In nonsyndromic patients with apparently sporadic tumors, genetic mutations have been found in up to 27%, and genetic testing is now recommended for all patients with PHEOs and PGLs. Patients with syndromic lesions, a positive family history, or both should be tested for the appertaining gene. Recent discoveries have shown that the order of tested genes in nonsyndromic, nonfamilial cases can be based on histologic evaluation, location, and the biochemical phenotype of PHEOs and PGLs—the “rule of three.” Identification of a gene mutation may lead to early diagnosis and treatment, regular surveillance, and a better prognosis for patients and their relatives.


Genetic testing Paraganglioma Pheochromocytoma Multiple endocrine neoplasia type 2 von Hippel-Lindau disease Neurofibromatosis type 1 Succinate dehydrogenase complex genes Immunohistochemistry Catecholamines