Pleuropulmonary Blastoma
The goal of the PPB DICER1 Syndrome Study is to improve the care of individuals with PPB and other tumors associated with changes in the DICER1 gene.
Pleuropulmonary blastoma (PPB) is a rare [glossary term:] tumorAn abnormal mass of tissue that results when cells divide more than they should or do not die when they should. Tumors may be benign (not cancer), or malignant (cancer). Also called neoplasm. of the lung. It is typically diagnosed in infants and children younger than six years old. Research has shown that PPB, and other related tumors, may be part of an inherited cancer predisposition. [glossary term:] syndromeAn abnormal mass of tissue that results when cells divide more than they should or do not die when they should. Tumors may be benign (not cancer), or malignant (cancer). Also called neoplasm. resulting from changes in a [glossary term:] geneAn abnormal mass of tissue that results when cells divide more than they should or do not die when they should. Tumors may be benign (not cancer), or malignant (cancer). Also called neoplasm. known as DICER1. Not everyone with PPB has a change in DICER1 that can be detected from a blood and/or saliva sample.
Specifically the Study Seeks To:
- determine the frequency of DICER1 germline disease-causing variants (mutations) in the general population as well as among affected individuals
- identify the kinds of tumors and risks associated with those variants
- develop DICER1 evidence-based cancer screening and clinical management guidelines
- discover why some variant carriers develop cancer while others remain healthy
- identify medical conditions that arise in individuals with a DICER1 variant as they get older.
PPB DICER1 Study Newsletter
Read about how our work has already had a meaningful effect on the care of children and adults with a disease-causing variant in DICER1.
Join the Study
This study would not be possible without the participation of individuals and families. If you or someone you know has been diagnosed with PPB and has interest in joining the study, please contact us.
Join the Study1-800-518-8474