Pleuropulmonary blastoma (PPB) is a malignant tumor of the lung that affects young children. Fortunately PPB is rare, but for the 12 to 15 children and families affected per year the diagnosis can be devastating. Most children with PPB develop their tumors in the first five years of life. The cause of PPB is not known, but it appears to have a strong genetic (familial) component. First and second degree relatives of PPB patients appear to be at increased risk for PPB and other rare pediatric cancers. The study of rare inherited tumors such as PPB is often useful in the broader context of cancer biology. The genetic factors underlying inherited cancers not only shed light on the mechanisms of predisposition, but are also frequently important in other more common, non-heritable malignancies. PPB has some unique features that suggest that it is related to more common childhood tumors of the muscle (rhabdomyosarcoma) and kidney (Wilms tumor). Thus, understanding the genetic factors responsible for causing PPB might have broader implications for these tumors.

The identification of a genetic basis for PPB will form the foundation of important future studies that will directly affect the care of children with this disease and also improve our understanding of the biology and causes of PPB and other related childhood tumors. This discovery will also present numerous opportunities to help future PPB patients and their families including development of improved treatments.

The addition of key cancer geneticists and biologists to the research team, the completion of the human genome sequence and the availability of new genomic technology has brought us to a very important time in the study of this tumor. We believe we now have the technology and collaborative expertise to successfully find the genetic cause of PPB. All we need now is your support.

Who is eligible to participate?
All children with PPB and family members of children with PPB are encouraged to participate. By participating in the study children with PPB and their family members will make an important contribution to our understanding of this rare tumor. Results of the study may lead to new diagnostic tests and new treatments that may improve survival for children with PPB and adults with other tumor types.

Study objectives:

• to identify gene changes that may lead to the development of PPB
• to understand how other benign and malignant tumors are associated with these same genes changes within a family, and
• to understand the lifelong medical history of children with PPB

• Identify genes and pathways that prompt new approaches to therapy
• Establish screening guidelines for early cancer detection and could potentially lead to improved survival
• Develop gene-based screening tests to identify family members at risk for PPB and related tumors
• Learn about key processes related to early cell fate decisions in human development and cancer

• Read and sign a consent form that explains the research project
• Provide a small blood sample (blood tubes and mailing kit provided for use by the family physician)
• Fill out a medical questionnaire
• Allow study coordinators to contact you on an annual basis to update your medical information
• Contact additional family members to participate (if applicable)
• Release copies of cancer-related medical records (to confirm exact name and dates of cancer diagnoses)
• Release tissue block from PPB surgery

There is no cost to participating in the study.
All information is kept strictly confidential.
You do not have to live in St. Louis or even the United States to participate.  

For more information about participation in a PPB Research Study contact:
D. Ashley Hill, M.D.
Department of Pathology and Immunology
Washington University Medical Center
Box 8118
660 S. Euclid Avenue
St. Louis, MO  63110

Who do I contact to enroll?
Jennifer Ivanovich, M.S.,
Genetics Counselor and Study Coordinator
Box 8100
Washington University School of Medicine
660 S. Euclid Ave.
St. Louis, MO  63110