Multiple Endocrine Neoplasia Diagnosis

UT MD Anderson offers the most advanced methods and technology to diagnose multiple endocrine neoplasia (MEN). If you have symptoms that may signal MEN, your doctor will examine you and ask you questions about your health and your family history.

One or more of the following tests may be used to find out if you have MEN. These tests may also be used to find out if treatment is working.

Genetic testing: If other members of your family have or had MEN or other inherited diseases, MD Anderson offers advanced genetic testing to determine whether you may be at increased risk.

Genetic testing using a blood sample can identify MEN1 gene mutations in many people who have symptoms. A positive result can confirm a diagnosis or reveal which family members may be at risk of developing MEN1. Similarly, MEN2 is caused by mutations in the RET gene, and genetic testing can identify at-risk family members. However, a negative result does not completely rule out MEN1 or MEN2 if no known mutation has been identified in the family.

Genetic testing is available for adults and, in some cases, for children who show symptoms. For most types of MEN, testing is usually not done in children without symptoms because there are no preventive treatments at that age. MEN2 is an exception: children with a RET gene mutation have a high risk of medullary thyroid cancer, and doctors may recommend removing the thyroid in childhood to prevent cancer. A genetic counselor will discuss testing with you and your family, answer any questions and help you make an informed decision regarding testing.

Blood tests: Measure hormone levels, calcium, and other substances that can indicate overactive endocrine glands, such as the parathyroid, pancreas or pituitary.

Urine tests: Check for excess hormones or hormone byproducts (such as catecholamines or metanephrines) that can signal tumors in the adrenal glands or other endocrine tissues.

Imaging tests may include:

• CT or CAT scans: Identify tumors or abnormal growths in the endocrine glands, such as the pancreas, adrenal glands or parathyroids.
• MRI scans: Provide detailed images of soft tissues and glands, helping doctors locate small tumors and plan for surgery if needed.