PPB appears to have a strong genetic component. PPB has early onset of disease, occurring primarily in infants and children less than age six years. It is not unusual for children with PPB to have synchronous or metachronous cysts in the lung or neoplasia or dysplasia of other organs. Relatives of PPB patients also appear to be at increased risk for cystic nephroma, pediatric embryonal neoplasms including sarcomas, certain gonadal tumors and other conditions. (See Registry Publications Priest 1996; Boman 2006; Priest 2009; Hill 2009)
In April 2009, The PPB Registry and collaborators at Washington University St. Louis and other institutions reported germline loss-of-function DICER1 mutations in 11 families in which there were PPB, lung cysts, cystic nephroma and/or rhabdomyosarcoma (see Registry Publications Hill 2009). This is the first genetic abnormality described in familial PPB. This finding is probably the first step to understanding the events underlying the familial manifestations of PPB.
The goal of the continuing research is to extend these findings to more cases of PPB, to more families affected by PPB and especially to the apparently sporadic cases of PPB. It is hoped that knowledge of the genetic and molecular basis of PPB will lead to improvemnts in identification of susceptible individuals, to early detection, and to improvemnts in therapy. To learn more about the PPB Registry Genetic Study contact the Registry, go to the PPB Genetic Study website www.ppbgeneticstudy.org, or http://ppb.cancer.gov.
We encourage all children with PPB and their families consider participating in this important research effort.