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International PPB/DICER1 Registry
Trial Status: active
Pleuropulmonary blastoma (PPB) is a rare malignant neoplasm of the lung presenting in
early childhood. Type I PPB is a purely cystic lesion, Type II is a partially cystic,
partially solid tumor, Type III is a completely solid tumor. Treatment of children with
PPB is at the discretion of the treating institution. This study builds off of the 2009
study and will also seek to enroll individuals with DICER1-associated conditions, some of
whom may present only with the DICER1 gene mutation, which will help the Registry
understand how these tumors and conditions develop, their clinical course and the most
effective treatments.
Inclusion 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
Study sponsor and potential other locations can be found on ClinicalTrials.gov for NCT03382158.
