Learn About DICER1 Syndrome

What is the definition of DICER1 Syndrome?

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.

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What are the causes of DICER1 Syndrome?

DICER1 syndrome is caused by mutations in the DICER1 gene. This gene provides instructions for making a protein that is involved in the production of molecules called microRNA (miRNA). MicroRNA is a type of RNA, a chemical cousin of DNA, that attaches to a protein's blueprint (a molecule called messenger RNA) and blocks the production of proteins from it. Through this role in regulating the activity (expression) of genes, the Dicer protein is involved in many processes, including cell growth and division (proliferation) and the maturation of cells to take on specialized functions (differentiation).

How prevalent is DICER1 Syndrome?

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

Is DICER1 Syndrome an inherited disorder?

DICER1 syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder. It is important to note that people inherit an increased risk of tumors; many people who have mutations in the DICER1 gene do not develop abnormal growths.

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What are the latest DICER1 Syndrome Clinical Trials?
Familial Investigations of Childhood Cancer Predisposition

Summary: NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll. If you are interested in clinical testing please consider seeing a local genetic counselor or other genetics professional. If you have already had clinical genetic testing and meet eligibility...

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International Pleuropulmonary Blastoma/DICER1 Registry (for PPB, DICER1 and Associated Conditions)

Summary: Pleuropulmonary blastoma (PPB) is a rare malignant neoplasm of the lung presenting in early childhood. Type I PPB is a purely cystic lesion, Type II is a partially cystic, partially solid tumor, Type III is a completely solid tumor. Treatment of children with PPB is at the discretion of the treating institution. This study builds off of the 2009 study and will also seek to enroll individuals with ...

Who are the sources who wrote this article ?

Published Date: May 01, 2016Published By: National Institutes of Health

What are the Latest Advances for DICER1 Syndrome?
Sertoli-Leydig cell tumor in two siblings with DICER1 syndrome: A case report and literature review.
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