Condition

DICER1 Syndrome

DICER1 syndrome is a rare genetic condition that can increase the risk of developing certain tumors, both benign (noncancerous) and malignant (cancerous).

What are common features of DICER1 syndrome?

Signs and symptoms of DICER1 syndrome vary widely from person to person. Many people never develop symptoms, while others may develop tumors or other health conditions associated with the syndrome, such as:

Pleuropulmonary Blastoma (PPB): Lung tumor
Multinodular Goiter: Multiple nodules in the thyroid causing thyroid overgrowth
Thyroid Cancer: Usually follicular or papillary
Ovarian Sex Cord Stromal Tumor: Ovarian Tumors
Sertoli-Leydig Cell Tumor (SLCT)
Gynandroblastoma
Cystic Nephroma: Mass or tumor comprised of cysts in the kidney
Wilms Tumor: Malignant kidney tumor
Ciliary Body Medulloepithelioma: Malignant tumor in the eye
Nasal Chondromesenchymal Hamartoma: Noncancerous (benign) mass of the nasal passages or pharynx
Embryonal Rhabdomyosarcoma: Tumor in the cervix or vagina
Central Nervous System Tumors (CNS)
Pituitary Blastoma: Tumor of the pituitary gland in the brain
Pineoblastoma: Tumor of the pineal gland in the brain
Sarcoma: Tumors of the brain, bones or soft tissues
Embryonal Tumor
Presacral Teratoid Tumor
Multicystic Hepatic Lesion
Macrocephaly: Large head size

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Every child with DICER1 syndrome is different. We are prepared to meet you where you are, provide information and support, as well as the most advanced diagnosis and treatment for any symptoms affecting your child. Meet the doctors and surgeons who treat children with DICER1 syndrome and schedule an appointment today.

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Frequently Asked Questions

What causes DICER1 syndrome?

DICER1 syndrome is caused by a change (mutation) in the DICER1 gene. This condition is inherited in an autosomal dominant pattern, meaning a child can develop DICER1 syndrome by inheriting a gene change from one parent.

However, most people with a DICER1 gene change never develop related health problems, and those who do may be affected differently, even within the same family. A DICER1 gene change can be passed down through families for generations, sometimes without causing any health problems.

What is somatic mosaicism with DICER1 syndrome?

A small number of people with DICER1 syndrome have somatic mosaicism, which occurs when a gene change (mutation) happens early in a baby's development after conception, rather than being inherited through the egg or sperm. As a result, some of the body's cells carry the gene change, while others do not.

Individuals with somatic mosaicism may develop DICER1-related conditions such as thyroid nodules, thyroid cancer, Wilms tumor or GLOW syndrome, which can include developmental delays, lung cysts, overgrowth and Wilms tumor. The symptoms can vary from person to person depending on which cells carry the gene change.

Why is screening important for people with DICER1 syndrome?

Screening can help detect tumors early. Even though many people with a DICER1 gene change never develop health problems, doctors cannot predict who will be affected.

Because it is not possible to predict who will develop tumors, regular screening is important (especially if you have a family member who has tested positive for DICER1). Many DICER1-related tumors occur during specific stages of life, and the risk often decreases with age.

Departments that Treat DICER1 Syndrome

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Oncology

The Oncology Program at Children's National is ranked one of the best cancer centers for children by U.S. News & World Report thanks to our high level of experience and expertise. Learn more about this program.

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