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International PPB/DICER1 Registry
International Pleuropulmonary Blastoma/DICER1 Registry (for PPB, DICER1 and Associated Conditions)
Who can join
0 Minutes – 100 Years · All sexes · Healthy volunteers welcome
Full eligibility criteria
Inclusion Criteria: 1. Known or suspected PPB or related thoracic tumor 2. Known or suspected sex-cord stromal tumor including Sertoli-Leydig cell tumor and gynandroblastoma (males or females) 3. Other known or suspected DICER1-related condition including ovarian sarcoma, cystic nephroma, renal sarcoma, pineoblastoma, pituitary blastoma, nasal chondromesenchymal hamartoma, ciliary body medulloepithelioma and others 4. Individuals with known or suspected DICER1 pathogenic variation regardless of whether they have an established DICER1-associated condition 5. Informed consent by patient/ or parent/guardian (also, where appropriate: assent and HIPAA consent) Exclusion criteria: Absence of appropriate consent for Registry participation
About the study
PPB has strong genetic implications, with a unique set of conditions in an individual or their family, occurring mostly in childhood and adolescence. The International PPB/DICER1 Registry first reported DICER1 germline loss-of-function variations in individuals with PPB and their family members. Conditions associated with DICER1 include Sertoli-Leydig cell tumor (SLCT), gynandroblastoma, ovarian sarcoma, peritoneal PPB, lung cysts, renal cysts, cystic nephroma (CN), anaplastic sarcoma of the kidney (ASK), Wilms tumor, primary DICER1-associated central nervous system (CNS) sarcoma, pineoblastoma, pituitary blastoma, multinodular goiter, thyroid carcinoma, nasal chondromesenchymal hamartoma, ciliary body medulloepithelioma (CBME), juvenile hamartomatous intestinal polyps, embryonal rhabdomyosarcoma (ERMS) and undifferentiated sarcoma. DICER1 variations may also be associated with macrocephaly and overgrowth syndrome.
The International PPB/DICER1 Registry estimates that 30-50 cases of Type I and Ir PPB and 40-60 cases of Types II and III PPB are diagnosed annually worldwide. In 2009, the International Pleuropulmonary Blastoma Registry began a prospective study to collect treatment data on individuals for whom therapy decisions were made by their treating institution.
Sponsor: Children's Hospitals and Clinics of Minnesota · Participants: 3,400 · Started: Dec 6, 2016
Contact the study team
- Kris Ann P Schultz, MD · Phone: 612-813-7121
- Paige HR Mallinger, MS · Phone: 612-813-7115
Official record on ClinicalTrials.gov — NCT03382158
Locations in the U.S.
| Minnesota | Children's Minnesota, Minneapolis |
Conditions
From ClinicalTrials.gov, data retrieved Nov 15, 2026. Each study sets its own eligibility; the study team decides who can join.