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Paraganglioma-Pheochromocytoma Syndrome Diagnosis

Hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome is diagnosed by the presence of certain clinical signs, a family history that shows the presence of PGL-PCC, and genetic testing that confirms the gene mutation.

Clinical signs

An individual already has paragangliomas or pheochromocytomas

The diagnosis of a hereditary paraganglioma-pheochromoctyoma (PGL/PCC) syndrome should be considered in all individuals with PGL and/or PCCs, particularly those where the tumors are:

A specific subtype of PGL/PCC types may be suspected based on distinct clinical characteristics that are present in the patient

Family history

A patient's family history shows an increased number of individuals with PGL/PCC

A detailed review of an individual’s family history is important in diagnosing hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndrome. A doctor or genetic counselor may construct a pedigree, or a multi-generation family tree, that indicates:

Genetic testing

In order to confirm on a molecular level that an individual has hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndrome, he or she can undergo the process of genetic testing:

Who should consider undergoing genetic testing for hereditary paraganglioma-pheochromocytoma syndrome?

 

People with pheochromocytoma or paraganglioma

Any individual with pheochromocytoma (without evidence of other conditions related to hereditary PGL/PCC — see below) or paraganglioma, regardless of family history or age, should be offered genetic testing to identify a possible underlying gene mutation. Since there are several genes that are considered for genetic testing, testing should proceed in a stepwise manner based on:

However, as new advances in genetic testing become available, such as "multi-gene panels" which allow for simultaneous testing of multiple genes at a low cost, these multi-gene panels may eventually repalce stepwise genetic testing for PGL/PCC.

First-degree relatives of someone with a mutation in a PGL/PCC-associated gene

People with conditions related to hereditary PGL/PCC

There are other genetic conditions in which PCCs and catecholamine-secreting PGLs can be found, including Neurofibromatosis type 1 (NF1), von Hippel-Lindau disease (VHL), Multiple Endocrine Neoplasia type 2 (MEN, Type 2) and Carney syndrome. However, there are often additional clinical features associated with these conditions and the presence of these features should be considered when outlining a plan for genetic testing. 

Reproductive options

Reproductive options exist for an individual with an alteration in a PCC/PGL-associated gene who does not wish to pass this alteration on to future children:

References

Gimenez-Roqueplo AP, Lehnert H, Mannelli M, Neumann H, Opocher G, Maher ER,et al. Phaeochromocytoma, new genes and screening strategies. Clin Endocrinol (Oxf). 2006 Dec;65(6):699-705. Cited in PubMed; PMID 17121518. Read the abstract

Hensen EF, Bayley J. Recent advances in the genetics of SDH-related paraganglioma and pheochromocytoma. Fam Cancer. 2011 Jun;10(2):355-63. Cited in PubMed; PMID 21082267. Read the article

Young, WF Jr. Endocrine hypertension. In: Kronenberg HM, Melmed S, Polonsky KS, Larsen PR, editors. Williams textbook of endocrinology. 11 ed. Philadelphia: Saunders Elsevier; 2008. pp 505-37.


Related information

Overview of paraganglioma-pheochromocytoma (PGL-PCC) syndrome 
Paraganglioma-pheochromocytoma (PGL-PCC) syndrome cancer risks and screenings
Resources for people with paraganglioma-pheochromocytoma (PGL-PCC) syndrome


Reviewed by: Kim Nichols, MD, Kristin Zelley, MS
Date: September 2012

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