Familial cystic nephroma and pleuropulmonary blastoma

Cancer. 1993 Feb 15;71(4):1338-42. doi: 10.1002/1097-0142(19930215)71:4<1338::aid-cncr2820710427>3.0.co;2-a.


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.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Female
  • Humans
  • Infant
  • Kidney Neoplasms / genetics*
  • Kidney Neoplasms / pathology
  • Lung Neoplasms / genetics*
  • Lung Neoplasms / pathology
  • Male
  • Neoplasms, Germ Cell and Embryonal / genetics*
  • Neoplasms, Germ Cell and Embryonal / pathology
  • Pleural Neoplasms / genetics*
  • Pleural Neoplasms / pathology
  • Wilms Tumor / genetics*
  • Wilms Tumor / pathology