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Pleuropulmonary Blastoma (PPB) Cancer Predisposition Syndrome

A Natural History Study of the DICER1 Gene

What is PPB?

Pleuropulmonary blastoma (PPB) is a rare tumor of the lung. Research has shown that PPB may be part of an inherited cancer predisposition syndrome resulting from mutations of a gene known 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 and other sex cord-stromal tumors, ocular medulloepithelioma, Wilms tumor, embryonal rhabdomyosarcoma and pineoblastoma. Other conditions such as multinodular goiter are also seen in this syndrome.

What is the PPB Study?

The Clinical Genetics Branch (CGB) is conducting this study in collaboration with the International Pleuropulmonary Blastoma Registry, the International Ovarian and Testicular Stromal Tumor Registry, the Department of Pathology at Children's National Medical Center in Washington, D.C. and researchers from St. Louis Children's Hospital, part of  Washington University in St. Louis (read an article about their research). 

Our research aims to define the tumor types and risks associated with the DICER1 syndrome and to identify other genes that may play a role in this syndrome. We also would like to understand why some mutation carriers develop a malignancy while others remain healthy.

Our cohort study is enrolling families with at least one member with a tumor from the DICER1 syndrome. The study is also recruiting relatives of the patient (brothers, sisters, parents, and children).

Research Goals

Our overall goal is to gain a better understanding of how cancer develops in people with a DICER1 mutation. Scientists refer to this undertaking as a natural history study. Research in this area may give us clues as to how we may improve health care offered to persons with a DICER1 mutation. In addition the study team will:

  • Seek to identify specific genetic mutations in each family;
  • Screen participants for early changes related to cancers that occur in the DICER1 syndrome;
  • Perform detailed clinical studies on blood and tumors collected from participants;
  • Monitor study participants long-term to identify future complications related to the syndrome.

For more information, contact Douglas Stewart, M.D.

Pleuropulmonary Blastoma (PPB) Cancer Predisposition Syndrome

Information for Participants: PPB Study

Study protocol: 11-C-0034

Enrollment or Questions

To enroll or inquire about this study, please contact Stephanie Steinbart, the study referral nurse: 1-800-518-8474 or StephanieSteinbart@westat.com.