The primary risk in hereditary PGL/PCC is the development of paragangliomas and pheochromocytomas. While the majority of these tumors are benign, in certain cases they may be malignant and thus more likely to spread to other parts of the body.
Individuals with hereditary PGL/PCC are also at an increased risk to develop:
The exact tumor risks for individuals with hereditary PGL/PCC are dependent on the specific PGL/PCC-associated gene that is affected.
Regardless of whether one decides to pursue testing for PGL/PCC-associated genetic mutations, it is recommended that an individual carrying a clinical diagnosis of hereditary PGL/PCC, individuals without manifestations of the condition but who are known to have a PGL/PCC predisposing mutation, and at risk relatives who have not undergone genetic testing, consider the following evaluation and surveillance recommendations. It is important to note that these are only recommendations. There is no current medical consensus regarding the optimal surveillance for the development of tumors in individuals with PGL/PCC:
Screening should begin at age 10 years or at least 10 years before the earliest age at diagnosis in the family. For individuals with abnormal test results, further analyses may be warranted to rule-out an underlying PGL/PCC.
In addition to following recommended cancer surveillance guidelines, children and adults with PGL/PCC should be encouraged to follow-up with physicians familiar with this disease. They should lead as healthy a lifestyle as possible with avoidance of exposure to the sun and ionizing radiation. Individuals with PGL/PCC should also avoid living in places of high altitude and should avoid participating in activities that promote long-term exposure to hypoxia (where the body as a whole is deprived of adequate oxygen). Activities such as cigarette smoking that predispose to chronic lung disease should also be discouraged in persons who have a mutation in one of the PGL/PCC-associated genes.
Reviewed by: Kim Nichols, MD, Kristin Zelley, MS
Date: August 2012