Genetic Study/Tissue Bank

Study on the Genetic Basis of PPB

The PPB/DICER1 Registry is continuing a comprehensive study of the genetics of PPB/DICER1 related conditions. Most childhood cancers of 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 International PPB/DICER1 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 was 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, DICER1 and its associated conditions.

The National Cancer Institute’s (NCI) Clinical Genetics Branch has partnered with the PPB/DICER1 Registry to study individuals with a personal or a family history of PPB and/or other rare tumors that can be associated with PPB/DICER1 (e.g., cystic nephroma, nasal chondromesenchymal hamartoma, ovarian Sertoli-Leydig cell tumors, ocular medulloepithelioma). The NCI study is open only to residents of North America, but Dr. Ashley Hill’s genetic study continues to enroll participants from around the world. Visit to learn more about Dr. Hill’s study.

We ask that all PPB patients and their families consider participating in PPB genetic research