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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. Affected members in the same family can be very differently affected.
Source: GARD Last updated on 05-01-20
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.
Last updated on 04-27-20
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