Genetic counseling plays a crucial role in managing pheochromocytomas. These tumors are genetic in 30% to 40% of cases, which means there is a significant chance that your relatives may share the condition, or you may pass a higher risk to your children.
Our doctors are studying new mutations (changes) that cause pheochromocytoma and paraganglioma syndromes. Their work has helped establish that providing precision treatment – care based on your genetics and advanced imaging – leads to better outcomes for you. This research guides our treatment philosophy at Stanford.
Genetic risk assessment
Our Endocrine Tumor Program includes a nationally recognized specialist in genetic testing and counseling specifically for endocrine tumors, including pheochromocytomas. Because many pheochromocytomas have a genetic cause, everyone diagnosed with pheochromocytoma tumors should have genetic testing. The expertise to conduct that testing isn’t available everywhere, but Stanford includes genetic risk assessment as part of our routine treatment.
Genetic evaluation equips your doctors to understand the metabolic basis of a particular disease. The disease’s genetic makeup influences how a tumor might behave. It also offers clues about what other tumors, in what other areas of the body, to watch for.
People with the mutation that causes pheochromocytoma have a higher likelihood of developing recurrent pheochromocytoma tumors or related tumors, such as gastrointestinal stromal tumors (GIST). Our doctors tune your care specifically to look for those other tumor types. Our goal is to catch other tumors as early as possible, so that you receive appropriate care.
If you have the gene mutation, your family members may also be at higher risk for pheochromocytoma and related tumors. Your doctor will discuss genetic risk assessment and management services that may benefit you and your family.
Genetic mutations and pheochromocytoma
Pheochromocytomas are associated with several genetic syndromes:
- Von Hippel-Lindau syndrome (vHL)
- Multiple endocrine neoplasia type 2 (MEN2)
- Neurofibromatosis type 1 (NF1), also called Von Recklinghausen's disease
- Familial paraganglioma syndrome (SDHx)