TY - JOUR
T1 - Familial association of pleuropulmonary blastoma with cystic nephroma and other renal tumors
T2 - A report from the International Pleuropulmonary Blastoma Registry
AU - Boman, Françoise
AU - Hill, D. Ashley
AU - Williams, Gretchen M.
AU - Chauvenet, Allen
AU - Fournet, Jean Christophe
AU - Soglio, Dorothée Bouron Dal
AU - Messinger, Yoav
AU - Priest, John R.
PY - 2006/12
Y1 - 2006/12
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=33751435602&partnerID=8YFLogxK
U2 - 10.1016/j.jpeds.2006.08.068
DO - 10.1016/j.jpeds.2006.08.068
M3 - Article
C2 - 17137906
AN - SCOPUS:33751435602
SN - 0022-3476
VL - 149
SP - 850-854.e2
JO - Journal of Pediatrics
JF - Journal of Pediatrics
IS - 6
ER -