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Study identifier: NCT01247597 Synced from ClinicalTrials.gov · July 28, 2026
● Recruiting

DICER1-related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study

Condition: Pleuropulmonary Blastoma · Cystic Nephroma · Ovarian Sertoli-Leydig Cell Tumors  ·  Sponsor: National Cancer Institute (NCI)

PhaseN/A
Planned participants1500
Who can joinAll sexes, 1 Month to 99 Years
Healthy volunteersYes

About this study

Background: \- Pleuropulmonary blastoma (PPB) is a rare fast-growing lung tumor that is associated with other, rare tumor types. Most cases of PPB appear in children younger than 6 years of age. Recently, it has been shown that this condition can be inherited (e.g., mutation of the DICER1 gene). Researchers are studying both clinical and genetic aspects of this newly described condition. They are interested in collecting further medical history and genetic information on individuals and close relatives of individuals who have PPB or other rare associated tumors. Objectives: \- To study individuals with a personal or a family history of pleuropulmonary blastoma (PPB) or other rare tumors that can be associated with PPB (e.g., cystic nephroma, nasal chondromesenchymal hamartoma, ovarian Sertoli-Leydig cell tumors, ocular medulloepithelioma). Eligibility: * Individuals who have been diagnosed with PPB and/or PPB-related tumors. * Close blood relatives (e.g., parents, siblings, grandparents) of individuals who have been diagnosed with PPB and/or PPB-related tumors. Design: * Interested participants can enroll or inquire about this study by calling 1-800-518-8474. * Participants will be asked to complete family history and medical history questionnaires. They will complete the questionnaire if they are at least 18 years of age, or another person will complete the questionnaire if the key family member is too young to do so on his or her own. * Participants will be asked to …

This description comes directly from the study's public registry record.

Talk to the study team

NCI Family Study Referrals  ·  (800) 518-8474  ·  ncifamilystudyreferrals@mail.nih.gov

Douglas R Stewart, M.D.  ·  (240) 276-7238  ·  drstewart@mail.nih.gov

Always discuss trial participation with your own doctor first.

Locations (2)

National Institutes of Health Clinical CenterBethesda, Maryland, United StatesRecruiting
National Cancer Institute - Shady GroveRockville, Maryland, United StatesRecruiting

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Source record: clinicaltrials.gov/study/NCT01247597