Pheochromocytoma/Paraganglioma

Description

  • Paragangliomas (PGLs) are tumors of the paraganglia. These tumors can be classified based on location or into sympathetic or parasympathetic depending on the type of paraganglia from which they originate. Pheochromocytomas (PCCs) are tumors of the adrenal medulla, and although they are typically benign, they may secrete hormones or cause other problems due to mass effect. These two types of tumors can be seen together in the same individual, particularly if they are due to an underlying cancer predisposition syndrome.

How often is a hereditary cause identified?

  • Up to 40% of individuals with PGLs and about 25% of individuals with PCCs have an underlying germline genetic etiology that accounts for their tumor history (Else et al, 2008).

How does identifying a hereditary cause change a patient’s medical management?

  • Ongoing screening for PGLs/PCCs is recommended in individuals who are found to have a hereditary predisposition.

  • Specific recommendations are gene-specific, but typically include a combination of biochemical screening annually, and MRI every 2-5 years.

How are these conditions inherited?

  • Most known hereditary causes of PGLs/PCCs are inherited in an autosomal dominant pattern. This means that a parent with a gene variant causing a hereditary predisposition identified has a 50% chance to pass on that variant with each pregnancy.

  • Once a genetic cause for hereditary PGL/PCC is identified in an individual, testing of their family members is recommended so that they can be screened for tumors appropriately.

Where can I learn more about hereditary PGL/PCC?

References

  • Else T, Greenberg S, Fishbein L. Hereditary Paraganglioma-Pheochromocytoma Syndromes. 2008 May 21 [Updated 2023 Sep 21]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1548/