International Pleuropulmonary Blastoma/DICER1 Registry (for PPB, DICER1 and Associated Conditions)
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.
• Known or suspected PPB or related thoracic tumor
• Known or suspected sex-cord stromal tumor including Sertoli-Leydig cell tumor and gynandroblastoma (males or females)
• 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
• Individuals with known or suspected DICER1 pathogenic variation regardless of whether they have an established DICER1-associated condition
• Informed consent by patient/ or parent/guardian (also, where appropriate: assent and HIPAA consent)