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Study on the Genetic Basis of PPB
The PPB Registry is continuing a comprehensive study of the genetics of PPB. Most childhood cancers PPB are “sporadic” and are isolated events in a family. In contrast, about 40% of PPB cases appear to have a genetic cause. These are the PPB cases in which the PPB child (a) has more than PPB, such as multiple or bilateral lung cysts, kidney cysts, other cancers or (b) has young relatives with such additional problems.
In 2009, the PPB Registry and collaborators at Washington University St. Louis and at other institutions reported the first results of this research. DNA mutations in the gene DICER1 were found in 11 families with PPB, lung cysts, cystic nephroma and/or rhabdomyosarcoma. This is the first specific genetic abnormality associated with PPB and may be the first step to understanding the events underlying familial manifestations of PPB (see Registry Publications Hill 2009). This research must be extended to many more cases of PPB.
PLEASE CONSIDER ENROLLING IN THE GENETIC STUDY OF PPB. The study will be explained in detail. You will have a chance to read about the study and then be asked to consent to the study. A small blood or saliva sample is required. Contact the Registry at gretchen.williams@childrensmn.org or go to www.ppbgeneticstudy.org.
PPB Tissue Bank
A Tissue Bank for PPB specimens has been established by the International PPB Registry. The purpose is to have PPB tissue stored for research purposes, as new techniques are developed to study cancer. At the time of surgery, extra tissue is often available and can be frozen for future use. Almost every hospital is equipped to do this. The Registry can arrange shipment from almost anywhere in the world.
PLEASE CONSIDER SENDING TISSUE TO THE PPB TISSUE BANK, whenever surgery on a tumor is planned. Contact gretchen.williams@childrensmn.org.
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