What are the other Names for this Condition? (Also known as/Synonyms)

• DICER1-Related Pleuropulmonary Blastoma
• DICER1 Syndrome

What is DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome? (Definition/Background Information)

• DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome causes a moderately increased risk for certain cancers and tumors. The lungs, kidneys, ovaries, and thyroid are the most commonly involved sites
  • Pleuropulmonary blastoma is the most commonly associated tumor and often occurs in infants and young children
  • Cysts in the kidneys (cystic nephroma) are also associated with DICER1 Syndrome. These cysts typically develop in childhood, but do not usually cause any health problems
  • Women with DICER1 Syndrome are at an increased risk for Sertoli-Leydig tumors of the ovaries
• DICER1 Syndrome is also associated with goiter (multiple fluid-filled or solid tumors in the thyroid gland). These goiters typically occur in adulthood and most often do not cause symptoms
• DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome is caused by mutations in the DICER1 gene. It is passed through families in an autosomal dominant fashion 
• Affected members in the same family can be very differently affected

(Source: DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

Who gets DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome? (Age and Sex Distribution)

• DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome is a rare congenital disorder. The presentation of symptoms may occur in childhood, adolescence, or adulthood
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome can be inherited
• Currently, no other risk factors have been clearly identified for the syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome? (Etiology)

• DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome is caused by mutation(s) in the DICER1 gene
• This gene codes for microRNAs, which regulate a number of processes, including proliferation and differentiation of cells
• The syndrome is inherited in an autosomal dominant manner

Autosomal dominant inheritance: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

What are the Signs and Symptoms of DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome?

The signs and symptoms of DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome may vary among affected individuals in type and severity. It may include:

• Abnormality of metabolism/homeostasis
• Medulloblastoma
• Pleuropulmonary blastoma
• Rhabdomyosarcoma

(Source: DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

How is DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome Diagnosed?

DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary
• Molecular genetic testing to check for or confirm DICER1 gene mutation(s)

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome?

The complications of DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome may include:

• Anxiety regarding one’s health status
• Trouble with breathing and/or swallowing, if goiter is present
• Development of lung, kidney, ovarian or thyroid cancer(s)
• Tumor metastasis to local and distant sites

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome Treated?

There is no cure for DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develops.

How can DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome be Prevented?

DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome may not be preventable, since it is a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy), if available, may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome? (Outcomes/Resolutions)

• The prognosis of DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/