Original articleFamilial association of pleuropulmonary blastoma with cystic nephroma and other renal tumors: A report from the International Pleuropulmonary Blastoma Registry
Section snippets
Methods
All cases of PPB from the International PPB Registry and the literature (1984-2005) were reviewed for association with renal tumors. The International PPB Registry was formed in the late 1980s to collect and evaluate cases of PPB (www.ppbregistry.org). The PPB Registry obtains cases of PPB through oncology or pathology consultation, via parental enrollment, and by soliciting participation from authors reporting cases of PPB. Written informed consent is obtained from the parents of the children
Results
We identified 20 renal tumors in 17 families with PPB, including 15 CN, three renal cysts diagnosed radiographically, one cystic intralobar nephrogenic rest, and one WT (Table I). The PPB and renal tumor association was found in 14 of 152 (9.2%) centrally reviewed Registry cases. Eleven children had both pulmonary and renal tumors (seven CN). In seven of these children, the renal and pulmonary tumors were diagnosed simultaneously. In three children, the renal tumor was identified first, and in
Discussion
CN, in the past referred to as multilocular cyst, is a benign neoplasm of the kidney that is distinct from developmental cystic diseases of the kidney, and from multilocular cysts in adults. Although in many reports, CN is reported as a tumor preferentially affecting adults, the incidence appears to be bimodal with a proportion of cases presenting in children <4 years of age.6, 13, 14, 15 It would not be surprising that patients with cases presumed to have a constitutional basis, such as those
Acknowledgments
The PPB Registry thanks Nancy Battaglia and Kris Doyle for help with case collection. The Registry thanks the many families of children with PPB, pathologists, oncologists, surgeons, clinical data analysts, geneticists and other caregivers who have provided cases and information, especially Kalliopi Stefanaki, Department of Pathology, Children’s Hospital Aghia Sophia, Athens, Greece; Anastasia Stassinopoulou, Department of Oncology, Athens Pediatric Center, Athens, Greece; Christos Salakos,
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The International Pleuropulmonary Blastoma Registry has been funded since 1987 by an annual charity tennis tournament, the Pine Tree Apple Tennis Classic, dedicated to research in pediatric oncology, and by the Theodora H. Lang Charitable Trust.