MEN2 is diagnosed when someone has:
- one or more tumours linked to MEN2 and a MEN2 gene mutation
- one tumour linked to MEN2 and a member of their family has MEN2
- a MEN2 gene change found after gene testing.
If you have a tumour that could be caused by MEN2, your doctors will examine you and arrange tests to check for other tumours linked to MEN2. They will also ask you about any illnesses your close relatives have had. This is to check whether other family members may have had MEN2 tumours.
You will have a blood sample taken for genetic testing. This will look for the MEN2 gene. If you have the MEN2 gene, other close family members will be offered genetic testing too. Close family members are parents, brothers, sisters and children.
Problems caused by MEN2 can often be recognised at an early stage and successfully treated or controlled. The earlier someone knows they have a MEN2 gene change, the sooner they can have treatment and monitoring to help prevent problems.
Gene testing for MEN2
MEN2 is due to a change in a gene (mutation). We inherit two copies of every gene – one from our mother and one from our father.
People with MEN2 have one normal MEN2 gene and one MEN2 gene with a change (mutation). They can pass on either copy to their children, so there is a 1 in 2 (50%) chance that a child of someone with MEN2 will inherit the condition. The chance is the same for each child whether they are a boy or girl.
Before genetic testing is carried out, counselling is arranged to help people understand how the test results may affect them individually and as a family.
If a gene change is found, family members can then be tested to see whether they have inherited the same gene change. Family members who don’t have the MEN2 gene change won't need further tests or investigations. Family members who have inherited MEN2 will have regular tests to check for signs of tumours. This is called screening. When appropriate, they will be offered surgery to reduce the risk of medullary thyroid cancer developing.
Tests for MEN2
Tests can be used to find the cause for particular symptoms. They can also be used to check for MEN2 tumours before they cause any symptoms. This is called monitoring or screening. It’s done so that tumours can be detected and treated at an early stage before they begin to cause problems.
You can usually have any tests done as an outpatient.
You may have the following tests:
Blood tests
These are used to check the levels of different hormones and chemicals in your body.
24-hour urine collection
This test may be done to check for adrenal gland tumours. It measures the level of hormones called catecholamines, which are made by the adrenal glands. People with adrenal gland tumours (phaeochromocytoma) often produce too much of these hormones.
Biopsy
This is used to look at tissue in part of the body. It shows whether the tissue is normal or abnormal and cancerous or non-cancerous. A doctor takes a sample of cells or tissue from a part of the body. The sample is then examined under a microscope to look for changes in the cells.
Ultrasound scan
An ultrasound scan uses soundwaves to build up a picture of the organs inside the body. The person doing the ultrasound spreads a gel over the part of your body to be scanned. Then they rub a small device over the area. The device produces soundwaves, which are converted into a picture by a computer.
CT (computerised tomography) scan
A CT scan takes a series of x-rays that build up a three-dimensional picture of the inside of the body. The scan is painless and takes about 10–30 minutes. CT scans use a small amount of radiation, which is very unlikely to harm you. They don’t make you radioactive.
MRI (magnetic resonance imaging) scan
This test uses magnetism to build up a detailed picture of areas of your body. Before the scan, you may be asked to complete and sign a checklist. This is to make sure that it’s safe for you to have an MRI scan.
During the test, you lie very still on a couch inside a long cylinder (tube) for about 30 minutes. It is painless but some people feel a bit claustrophobic during the scan. It’s also noisy, but you’ll be given earplugs or headphones.
I-123-MIBG scan
People who have phaeochromcytoma may be offered this test. It involves having an injection of I-123-MIBG. This is mildly radioactive iodine, which is absorbed by adrenal cells. The body is then scanned to check for areas that have absorbed the iodine.
The dose of radiation from the scan is very low – about the same amount you get from an x-ray. Almost all the radiation leaves your body within a week. If you are planning to travel abroad within three months of the scan, let the doctor in the scanning department know. They can give you a letter to show to customs officials. This is because ports and airports have very sensitive radiation detectors that may pick up tiny amounts of radioactivity.