Elsevier

The Journal of Pediatrics

Volume 149, Issue 6, December 2006, Pages 850-854.e2
The Journal of Pediatrics

Original article
Familial association of pleuropulmonary blastoma with cystic nephroma and other renal tumors: A report from the International Pleuropulmonary Blastoma Registry

This work was presented in abstract form at the Society for Pediatric Pathology/Pediatric Pathology Society Joint Meeting in Tours, France, September 2, 2005.
https://doi.org/10.1016/j.jpeds.2006.08.068Get rights and content

Objective

To characterize the association of pleuropulmonary blastoma (PPB) with cystic nephroma (CN) and other renal tumors.

Study design

Complete clinicopathologic review of cases from the International PPB Registry and literature.

Results

We identified 18 patients with PPB associated with 20 renal tumors (15 CN), either in themselves or family members. All patients with PPB were <5 years of age. All but one of the renal diagnoses were made before 4 years of age. Eleven children had both PPB and renal tumor, one of whom also had a sibling with CN. Six children with PPB alone had one or more family members with CN. The mother of one child with PPB had Wilms’ tumor. Pulmonary disease was bilateral in four patients. Renal disease was bilateral in three patients. Two children with PPB and bilateral renal cystic tumors also had intussusceptions because of small bowel juvenile polyps. In six families, dysplasia/neoplasia affected organs other than lung and kidney.

Conclusions

CN or related tumors were found in 9.2% of 152 Registry-reviewed PPB cases. The occurrence of rare pulmonary and renal tumors together in patients and/or family members, the early age of onset, and the multiplicity of tumors is compatible with a constitutional genetic predisposition.

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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  • Cited by (0)

    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.

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