A Diverse Set of Germline Mutations

For carriers of some mutations, the overall lifetime risk of developing PPGL can be greater than 80%. Genetic testing for patients and their family members is critical.

Genetics of PHEO/PGL

PPGL tumors are more commonly associated with an inherited mutation than any other cancer type.
PHEO/PGL is caused by inherited genetic mutations more than any other cancer.

While research is ongoing, there are over 20 different genes that have been found to be associated with developing PPGL.

Historically, the frequency of heritable PPGL was believed to be 10%, but with increased study and the identification of specific cancer predisposition genes, that figure is now estimated at about 40%, and up to 50% for metastatic cases. Even in seemingly sporadic cases of PPGL, approximately 12% of patients carry a new germline mutation.

Importance of Genetic Testing

Genetic testing enables early identification and proactive management for at-risk family members.

Despite the growing links between PPGL and germline mutations, genetic testing to identify at-risk individuals is not yet common practice in the US. For carriers of a mutation, the overall lifetime risk of developing PPGL can be more than 80%, depending on the mutated gene.

Repeat genetic testing may be required as new susceptibility genes are identified.

Research into the genetic landscape of PPGL is still evolving, and identification of new mutations is ongoing. Retesting of patients with suspicion for hereditary disease should be considered every 2 years as part of routine follow-up.