Familial cystic nephroma and pleuropulmonary blastoma.

Abstract

Cystic nephroma (CN) and pleuropulmonary blastoma (PPB) are rare tumors without any previously recognized familial association. Two cases of CN and one case of PPB in three siblings are reported. A 27-month-old girl and a 31-month-old boy underwent nephrectomy for CN and are free of disease in the contralateral kidney 16 and 14 years later, respectively. Their 28-month-old sister underwent pleuropneumonectomy with postoperative chemotherapy for PPB and died of recurrent disease 9 months later. To the knowledge of the authors, these cases represent the first reported familial occurrence of CN and the second of CN and PPB among siblings. The inheritance of a germline mutation predisposing to the development of these tumors is postulated.