Pleuropulmonary blastoma (PPB) is a rare tumor of the lung. Research has shown that PPB may be part of an inherited cancer predisposition syndrome that is due to mutations of a gene referred to as DICER1. The DICER1 syndrome is characterized by rare benign and malignant tumors such as pleuropulmonary blastoma, cystic nephroma, nasal chondromesenchymal hamartoma, ovarian Sertoli-Leydig cell tumor, ocular medulloepithelioma, and multinodular goiter.
The Clinical Genetics Branch (CGB) is conducting this study in collaboration with the International Pleuropulmonary Blastoma Registry, the Department of Pathology at Children's National Medical Center in Washington, D.C. and researchers from Washington University in St. Louis. Our research aims are to define the tumor types and risks associated with this syndrome and to identify other genes associated with these conditions. We also would like to understand why some mutation carriers develop a malignancy while others remain healthy.
Our cohort study will enroll families in which at least one member has or had a tumor from the DICER1 syndrome spectrum of tumors listed above. We plan to:
Our overall goal is to reach a better understanding of how tumors/cancers develop in persons with the DICER1 syndrome, so that we may improve the health care offered to persons with this disorder.
For more information, contact Douglas Stewart.