Pleuropulmonary blastoma (PPB) is a rare [glossary term:] tumor 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:] syndrome resulting from changes in a [glossary term:] gene known as DICER1. Not everyone with PPB has a change in DICER1 that can be detected from a blood and/or saliva sample.
The PPB DICER1 Syndrome Study is an observational study of individuals with PPB and/or other DICER1-related tumors and their families. The study will help researchers define the tumor types and risks associated with the DICER1 syndrome. We also would like to understand why some individuals with a change in DICER1 develop cancer while others remain healthy.
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. 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.