DICER1 Mutation

What is a mutation?

Genes are the body's instructions. We each have two copies of almost every gene. One copy is inherited (passed on) from each parent. Our bodies read the genes and use the instructions to make the proteins that make the cells that make up our body parts. Mutations are harmful changes in the genes that lead to changes in the ways that proteins are made

What is the DICER1 gene?

The DICER1 gene is an instruction that makes a protein called Dicer. The Dicer protein helps stop tumors from growing.

What does having a DICER1 mutation mean?

Most people with a DICER1 mutation are healthy. Some have minor health differences such as thyroid gland nodules or small cysts in the lung. Rarely, people with DICER1 mutation have tumors. A tumor is an abnormal growth. Tumors can be benign (not cancer) or malignant (cancer). These tumors can happen in the lungs, thyroid, ovaries or uterus, kidneys, digestive system, brain, eyes or nose. 

How is DICER1 diagnosed?

A blood, saliva, or tumor test can be used to find a DICER1 mutation. This test looks at a person’s two copies of the DICER1 gene. If a mutation is found in one of the copies, that person has a higher chance of developing DICER1-related problems.

Sometimes a DICER1 mutation is only found in the tumor. This means the DICER1 mutation is only present in some cells, not all of them. Usually only the cells with the DICER1 mutation are at risk for developing problems.   

What causes a DICER1 mutation?

Most people with a DICER1 mutation inherit it from a parent. Many times, the parent is healthy and does not know they have a DICER1 mutation. When a person with a DICER1 mutation has a child, they must pass on 1 of their 2 copies of the DICER1 gene. There is a 50% (or 1 in 2) chance the baby will get the mutation that causes DICER1 syndrome.

Some people (~20%) have a new change in the DICER1 gene. Nothing can be done to cause or to prevent a change in a gene. Usually there is no way for parents to know that a mutation has happened until their child begins to have symptoms of a condition.

How will my child be monitored?

All people with a DICER1 mutation should be seen yearly by a doctor or nurse practitioner who knows about the condition. Sometimes testing is done to look for early signs of problems. Tests for children may include:

• Chest x-ray or CT
• Thyroid ultrasound
• Abdominal ultrasound
• Pelvic ultrasound (girls only)
• Eye exam

Talk to your doctor about screening options. The decision to perform some tests (like a CT scan) should balance the risks of sedation and radiation exposure with the possible risk of tumor development or progression.

What else do I need to know?

More information regarding DICER1 and DICER1-related tumors is available through the International PPB/DICER1 Registry at www.PPBregistry.org or [email protected].

Questions?

This information is not specific to your child but provides general information. If you have any questions, please call your clinic.

Back To Top