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DICER1 syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Conditions

DICER1 syndrome

DICER1 syndrome is an inherited genetic condition that increases susceptibility to a variety of cancerous and noncancerous tumors, most notably in the lungs, kidneys, ovaries, and thyroid.

Overview and Symptoms

DICER1 syndrome is an inherited disorder that increases the risk of a variety of cancerous and noncancerous (benign) tumors, most commonly certain types of tumors that occur in the lungs, kidneys, ovaries, and thyroid (a butterfly-shaped gland in the lower neck). Affected individuals can develop one or more types of tumors, and members of the same family can have different types. However, the risk of tumor formation in individuals with DICER1 syndrome is only moderately increased compared with tumor risk in the general population; most individuals with genetic changes associated with this condition never develop tumors.

Pleuropulmonary Blastoma

People with DICER1 syndrome who develop tumors most commonly develop pleuropulmonary blastoma, which is characterized by tumors that grow in lung tissue or in the outer covering of the lungs (the pleura). These tumors occur in infants and young children and are rare in adults. Pleuropulmonary blastoma is classified as one of three types on the basis of tumor characteristics:

  • Type I: The growths are composed of air-filled pockets called cysts.
  • Type II: The growths contain both cysts and solid tumors (or nodules).
  • Type III: The growth is a solid tumor that can fill a large portion of the chest.

Pleuropulmonary blastoma is considered cancerous, and types II and III can spread (metastasize), often to the brain, liver, or bones. Individuals with pleuropulmonary blastoma may also develop an abnormal accumulation of air in the chest cavity that can lead to the collapse of a lung (pneumothorax).

Cystic Nephroma

Cystic nephroma, which involves multiple benign fluid-filled cysts in the kidneys, can also occur; in people with DICER1 syndrome, the cysts develop early in childhood.

Sertoli-Leydig Cell Tumors

DICER1 syndrome is also associated with tumors in the ovaries known as Sertoli-Leydig cell tumors, which typically develop in affected women in their teens or twenties. Some Sertoli-Leydig cell tumors release the male sex hormone testosterone; in these cases, affected women may develop facial hair, a deep voice, and other male characteristics. Some affected women have irregular menstrual cycles. Sertoli-Leydig cell tumors usually do not metastasize.

Multinodular Goiter

People with DICER1 syndrome are also at risk of multinodular goiter, which is enlargement of the thyroid gland caused by the growth of multiple fluid-filled or solid tumors (both referred to as nodules). The nodules are generally slow-growing and benign. Despite the growths, the thyroid's function is often normal. Rarely, individuals with DICER1 syndrome develop thyroid cancer (thyroid carcinoma).

Frequency

DICER1 syndrome is a rare condition; its prevalence is unknown.

Causes

DICER1 syndrome is caused by mutations in the DICER1 gene. This gene provides instructions for making a protein that is involved in the

Frequently Asked Questions

Screening is tailored to age and sex but generally includes annual chest X-rays or CT scans for children to detect pleuropulmonary blastoma, as well as regular thyroid ultrasounds to monitor for goiter or nodules. For females, ovarian and uterine ultrasounds are recommended starting in adolescence to screen for cystic nephroma or ovarian tumors, while kidney ultrasounds are performed periodically to check for renal cysts or tumors.
Pregnancy is possible for women with DICER1 syndrome, but it requires careful management due to the risk of tumor growth or complications from pre-existing conditions like multinodular goiter. The fetus has a 50% chance of inheriting the mutation if the mother is affected. Prenatal counseling and monitoring are essential to manage maternal health and prepare for potential genetic testing of the child.
Early signs may include respiratory distress, wheezing, or a persistent cough that does not resolve with standard treatment. A sudden onset of breathing difficulties or a collapsed lung (pneumothorax) can also be indicators. Because Type I pleuropulmonary blastoma presents as cysts, it may be asymptomatic until detected on imaging, which is why routine screening is critical for at-risk children.
While DICER1 syndrome increases the risk of specific tumors like pleuropulmonary blastoma, cystic nephroma, and multinodular goiter, the overall risk remains moderate compared to the general population. Most individuals with the mutation never develop tumors, but those who do tend to develop them at a younger age. The condition is characterized by a predisposition to both benign and malignant growths, requiring vigilant monitoring rather than assuming inevitable cancer development.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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