DICER1-related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study
This is not medical advice. AI-assisted translation — inaccuracies may occur. Always verify the original and consult your oncologist before taking any steps.
About the trial
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 sign a medical record release form to allow researchers to examine detailed medical history information. * Participants may be asked to have a physical examination and imaging studies, provide blood and saliva samples, or provide tumor tissue from prior biopsies or cancer surgeries. * Annually, participants will update the family history and individual information questionnaires to document important changes in medical history, and will also update the medical record release form. Participants may be asked to provide additional cheek lining cells and/or blood samples, as well as tumor tissue from any new or planned biopsies or tumor surgeries. * Treatment will not be provided as part of this protocol.
Original English text from ClinicalTrials.gov
Who can (and can't) join
✓ Qualifies
- •Osoby, u których potwierdzono nowotwór płuca PPB lub inne guzy powiązane z genem DICER1.
- •Osoby, u których stwierdzono lub podejrzewa się mutację w genie DICER1.
- •Osoby z rzadkimi guzami związanymi z genem DICER1, takimi jak np. torbiel nerki, guz nosa, guz jajnika, guz oka – nawet bez wywiadu rodzinnego.
- •Członkowie rodziny (rodzice, rodzeństwo, dzieci) osób z chorobami związanymi z genem DICER1, sami bez takich chorób (stanowią grupę kontrolną).
- •Każdy wiek jest dopuszczalny.
- •Nie ma ograniczeń dotyczących wcześniejszego leczenia.
Simplified criteria — AI translation
Trial details
- Minimum age
- 1 Month
- Maximum age
- 99 Years
- Last updated (source)
- July 8, 2026
- Sex
- No restrictions
Locations (2)
National Institutes of Health Clinical Center
Bethesda, United States
National Cancer Institute - Shady Grove
Rockville, United States
Trial contact
NCI Family Study Referrals
Douglas R Stewart, M.D.
Contact information from ClinicalTrials.gov. Contact in English.
Share this trial
Data from ClinicalTrials.gov. AI-assisted translation, last sync: 7/3/2026.
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