Familial association of pleuropulmonary blastoma with cystic nephroma and other renal tumors: A report from the International Pleuropulmonary Blastoma Registry - 09/08/11

Doi : 10.1016/j.jpeds.2006.08.068

Françoise Boman, MD, D. Ashley Hill, MD ^⁎ , Gretchen M. Williams, BS, Allen Chauvenet, MD, PhD, Jean-Christophe Fournet, MD, Dorothée Bouron-Dal Soglio, MD, Yoav Messinger, MD, John R. Priest, MD
Department of Pathology, University Hospital of Lille, Lille, France; Lauren V. Ackerman Laboratory of Surgical Pathology, Barnes-Jewish and St. Louis Children’s Hospitals, Washington University Medical Center, St. Louis, Missouri; the Department of Pediatric Hematology/Oncology, and the International Pleuropulmonary Blastoma Registry, Children’s Hospitals and Clinics of Minnesota, St. Paul, Minnesota; the Department of Pediatrics, Wake Forest University Medical Center, Winston-Salem, North Carolina; and the Department of Pathology, Hôpital Sainte-Justine, Montréal, Québec, Canada.

Reprint requests: Dr D. Ashley Hill, Department of Pathology and Immunology, Washington University Medical Center, Box 8118, 660 S. Euclid Ave., St. Louis, MO 63110.

Résumé

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.

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Abbreviations : CN, CPDN, LOH, PPB, WT

Plan

Methods

Results

Discussion

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.