| Hereditary PGL/PCC Syndrome |
| Geno
|
Mag
|
Summary
|
| (A;G)
|
6.2
|
Hereditary PGL/PCC Syndrome
|
| (C;G)
|
6.2
|
Hereditary PGL/PCC Syndrome
|
| (G;G)
|
0
|
common in clinvar
|
This is a genotype with recommended actions if clinically confirmed. In brief:
- Hereditary PGL/PCC syndrome includes developing paragangliomas (tumors that usually occur along the spine) and pheochromocytomas (tumors on the adrenal glands the organ that sits on top of the kidneys).
- Dominantly inherited mutations in at least seven genes may lead to this syndrome.
- While most paraganglial tumors are noncancerous, they may overproduce hormones leading to high blood pressure and other issues, and, patients are at higher risk for certain cancers.
- Regular clinical and biochemical monitoring by a physician or medical team with expertise in treatment of hereditary PGL/PCC syndromes is essential, preferably beginning as early as age 10 (depending on which gene is mutated).
- PGL/PCC patients are sensitive to low oxygen environments and probably should avoid smoking or living at high altitude.
- Disease progression is variable among mutation carriers. However, it is known that carriers of SDHD, SDHAF2, or MAX mutations inherited from a father are at significantly higher risk than carriers of maternally inherited PGL/PCC mutations.
The full ClinGen Actionability report about Hereditary Paraganglioma-Pheochromocytoma syndrome (PGL/PCC) can be found here.
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.
