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About the Study

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:

• include individuals known to have a tumor from the DICER1 syndrome spectrum as well as their relatives (brothers, sisters, parents, and children);
• collect clinical information from study participants and their physicians;
• perform detailed physical examinations, x-rays/CT-scans and routine laboratory tests on those who are interested in traveling to the NIH to be seen in person by our team;
• attempt identification of the specific genetic mutation that is associated with each family's increase risk of tumor(s);
• screen participants for early changes related to the specific cancers/tumors that occur in the DICER1 syndrome;
• perform detailed research laboratory studies on blood and tumors collected from study participants in an effort to understand the process by which cancers develop;
• monitor study participants in an ongoing fashion to determine the rate at which complications develop related to each disease, and to identify those complications more precisely;
• provide suggestions to study participants and their physicians regarding how to best take care of family members who are affected with this syndrome; and
• offer genetic counseling and an opportunity to learn the results of mutation testing, for those persons who decide that this information will be of use to them.

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.