Looking for hereditary paragangliomas and hereditary pheochromocytomas
We recommend genetic testing for all people with pheochromocytomas or paragangliomas. Given the high rates of underlying hereditary disease, such testing is considered standard of care.
We also recommend genetic testing any time we suspect a rare NET called a gastrinoma, especially if you have a family history of it.
With other suspected pancreatic and GI NETs, we recommend genetic testing in more limited circumstances. We take the same approach for lung NETs. Factors we take into account include:
- Family history of a known genetic variant
- Location of tumor
- Hormone release
- Aggressive tumor behavior
- Additional signs of a syndrome — either other cancer types or non-cancer conditions
- NETs initially forming in more than one spot
Identifying inherited genetic variants tied to neuroendocrine tumors is important for several reasons:
- Monitoring: If you haven’t developed a NET, we can create an individualized plan with imaging and blood work to watch for tumors. Earlier diagnosis provides a better chance at effective treatment. We can also test family members and make plans for anyone who tests positive. In some cases, we may recommend rapid, full-body MRI — an approach we developed.
- Treatment: When NETs do form, some variants tend to cause more aggressive disease. By knowing which variant is at play, we can adjust treatment recommendations.
- Support for family members: If you carry an inherited variant associated with an increased risk of NETs, your family members may also carry that change. Testing family members can improve their quality of life, as we can watch for tumors and reduce the risk of severe disease.
It’s important to keep in mind that if a parent has a known variant, you only have a 50-50 chance of inheriting it. Even if you do have that variant, you will not necessarily develop a NET. With some variants, the risk of developing disease remains relatively low. For others like MEN1, the risk is as high as 90 percent.