DICER1 Syndrome

What is DICER1 syndrome?

DICER1 Syndrome is a type of genetic mutation. It can lead to a greater risk for certain types of cancers. It can be linked to certain tumors in the:

• Kidneys
• Lungs
• Thyroid
• Ovaries
• Brain
• Other areas

The tumors may be malignant (cancer) or benign (not cancer).

What causes DICER1 syndrome?

DICER1 Syndrome can be inherited from parents. It can also be a result of a random mutation. That means that no first-degree relative (parent, sibling, or child) has the genetic predisposition.

In people who don’t have DICER1 Syndrome, most cells in the body have two working copies of the DICER1 gene (one from each parent). Those who have DICER Syndrome inherit one working copy and one copy that is altered.

If you have DICER1 Syndrome, there is a 50% your child will also have it.

If you’ve been diagnosed with DICER1 Syndrome and have questions, you can talk with a genetic counselor about them.

You can find a genetic counselor near you through the National Society of Genetic Counselors. Members of your child’s care team might have suggestions, too.

How common is DICER1 syndrome?

Estimates on how prevalent DICER1 Syndrome is vary. It’s a relatively newly discovered predisposition. One estimate places it between 1:2,529 and 1:10,600. Cancer Genome Atlas calculated the prevalence of DICER1 Syndrome to be 1:4,600.

It’s important to remember that genetic cancer predispositions are rare. They’re a factor in only 5-15% of childhood cancer cases.

Not everyone diagnosed with a genetic predisposition like DICER1 Syndrome will develop cancer.

How is DICER1 syndrome diagnosed?

DICER1 Syndrome is diagnosed through genetic testing.

If a first-degree relative is diagnosed with DICER1 Syndrome, then it may be a good idea for you to consider genetic testing for it.

You can talk with a doctor or genetic counselor about what testing you might need. It’s a good idea to weigh the possible benefits and risks. Everyone’s situation is different.

If you have been diagnosed with DICER1 Syndrome, let your first-degree relatives know so that they can be tested if they choose. Because these conversations can be difficult, you can talk with a genetic counselor about how to discuss DICER1 Syndrome with your relatives.

Being diagnosed with DICER1 Syndrome can be an emotional experience. Remember to seek help if you need it.

Is there a treatment for DICER1 syndrome?

There isn’t a treatment for DICER1 Syndrome. Instead, those with this genetic predisposition should get regular screenings and tests. This can allow doctors to catch possible cancers early – when they’re easiest to treat.

Here are some scans and tests you might need:

• Full physical exams, including:
  • Thyroid
  • Eye
  • Gynecological (for those assigned female at birth)  
• Chest imaging (like X-ray)
• Brain MRI
• Pelvic ultrasound (for those assigned female at birth)

Living a healthy lifestyle is recommended, too. It’s a good idea to take care of yourself by:

• Exercising regularly (unless your doctor says otherwise)
• Eating a healthy, balanced diet
• Getting enough sleep
• Avoiding tobacco (including secondhand smoke)
• Avoiding excessive sun
• Always wearing sunscreen

The International Pleuropulmonary Blastoma/DICER1 Syndrome Registry

Researchers are working to learn more about DICER1 Syndrome. Anyone who has been diagnosed with it can take part in the International Pleuropulmonary Blastoma/DICER1 Syndrome Registry.

To enroll, just add your information to the registry. You can also find more information about ongoing DICER1 Syndrome research and other resources on the site.