National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

DICER1-related pleuropulmonary blastoma cancer predisposition syndrome



Other Names:
DICER1-related pleuropulmonary blastoma; DICER1 syndrome

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. This syndrome is caused by mutations in the DICER1 gene. It is passed through families in an autosomal dominant fashion.[1] Affected members in the same family can be very differently affected.[1]
Last updated: 8/25/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
1%-4% of people have these symptoms
Medulloblastoma 0002885
Pleuropulmonary blastoma 0100528
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Rhabdomyosarcoma 0002859
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources


Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to DICER1-related pleuropulmonary blastoma cancer predisposition syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. There is a study titled "DICER1 and the Pleuropulmonary Blastoma Family Cancer Syndrome" that may be of interest to you. Click on the study title to learn more.
  • The National Cancer Institute's (NCI) Clinical Genetics Branch (CGB) is currently conducting an observational study of individuals with pleuropulmonary blastoma (PPB) and other DICER1-related tumors and their families entitled "Pleuopulmonary Blastoma DICER1 Syndrome Study". The purpose of this study is to help researchers define the tumor types and risks associated with the DICER1 syndrome. To learn more about this study, call 1-800-518-8474 or E-mail NCI.PPB@westat.com.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with DICER1-related pleuropulmonary blastoma cancer predisposition syndrome. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for DICER1-related pleuropulmonary blastoma cancer predisposition syndrome:
    International Pleuropulmonary Blastoma/DICER 1 Registry
     

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The International Pleuropulmonary Blastoma Registry Web site provides information on pleuropulmonary blastoma for patients and for health professionals. Click on the link above to visit the Web site.
  • Genetics Home Reference contains information on DICER1-related pleuropulmonary blastoma cancer predisposition syndrome. This website is maintained by the National Library of Medicine.

In-Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss DICER1-related pleuropulmonary blastoma cancer predisposition syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • DICER1 syndrome runs in my husband's family. I realize research on DICER1 syndrome is still being conducted and evolving, but is it possible DICER1 mutations play a role in molar pregnancy or in male infertility in general? See answer



  1. DICER1 syndrome. Genetics Home Reference. May 2013; http://ghr.nlm.nih.gov/condition/dicer1-syndrome. Accessed 8/25/2015.