International Pleuropulmonary Blastoma (PPB)/DICER1 Registry

In 1986, Children’s hematologist/oncologist Jack Priest, MD, founded the International Pleuropulmonary Blastoma (PPB)/DICER1 Registry to track pleuropulmonary blastoma cases worldwide. PPB/DICER1  is a rare pediatric lung cancer, occurring in 30 to 50 children in the U.S. each year. Today, we continue to gather information from patients diagnosed with PPB/DICER1 from around the world under the direction of Children’s hematologist/oncologist Dr. Yoav Messinger, MD.

In March 2009, results from the genetic research studies were released uncovering clues about PPB/DICER1. It identified a mutation more likely to produce PPB/DICER1 or other related developmental cancers. While the discovery has major implications for families with a child diagnosed with PPB/DICER1, it could also be a breakthrough for cancer research in general. The search for the cause of PPB/DICER1 has uncovered important information about how the cancer develops and potentially sheds light on how other cancers form. The research study continues with a focus on designing genetic testing for the specific mutation that will give families with a child diagnosed with PPB/DICER1 information about the risk factors for this disease.

More on the actual study

The PPB/DICER1 Registry staff at Children’s worked with colleagues from many institutions from around the country and the world to identify a specific genetic mutation in PPB/DICER1 patients and their families.

PPB/DICER1 has a strong genetic component. Individuals with this mutation are more likely to develop PPB/DICER1 or other related developmental problems. Current studies show that about 40 percent of PPB/DICER1 cases occur in families with a history of the disease or certain other childhood tumors. In contrast, most pediatric cancers occur sporadically, without any familial patterns. This led scientists and doctors to suspect the tumors were caused by an inherited genetic abnormality.

To uncover the role of the mutated gene, the research team studied the genetic makeup of 11 extended families with two or more members having PPB/DICER1 or related childhood tumors. The scientists say finding this variant form of a gene in some PPB/DICER1 families is a first step to understanding why PPB/DICER1 and other conditions may occur in some families. Results of the study may lead to new diagnostic tests and new treatments that may improve survival for children with PPB/DICER1 and adults with other tumor types. While the discovery has major implications for families with PPB/DICER1, it could also be a breakthrough for cancer research in general.