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Familial cystic nephroma and pleuropulmonary blastoma
B Delahunt1, K J Thomson, A F Ferguson
1Department of Pathology, Wellington School of Medicine, University of Otago, New Zealand.
Background:
Cystic nephroma (CN) and pleuropulmonary blastoma (PPB) are rare tumors without any previously recognized familial association.
Methods:
Two cases of CN and one case of PPB in three siblings are reported.
Results:
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.
Conclusion:
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.