title: Pleuropulmonary blastoma: a marker for familial disease.
abstract: OBJECTIVE
  To catalog and evaluate patterns of disease in families of children with pleuropulmonary blastoma (PPB).
  
  
  METHODS
  Data have been collected since 1988 on 45 children with PPB and their families. All pathologic materials were centrally reviewed. Preliminary molecular genetic analyses were performed when possible.
  
  
  RESULTS
  In 12 of 45 patients, an association was found between PPB and other dysplasias, neoplasias, or malignancies in the patients with or in their young relatives. The diseases found to be associated with PPB include other cases of PPB, pulmonary cysts, cystic nephromas, sarcomas, medulloblastomas, thyroid dysplasias and neoplasias, malignant germ cell tumors, Hodgkin disease, leukemia, and Langerhans cell histiocytosis. Abnormalities of the p53 tumor suppressor gene, Wilms tumor suppressor gene (WT1), and the putative second genetic locus for Wilms tumor (WT2) were not found in preliminary investigations.
  
  
  CONCLUSIONS
  The occurrence of PPB appears to herald a constitutional and heritable predisposition to dysplastic or neoplastic disease in approximately 25% of cases. All patients with PPB and their families should be investigated carefully. Further research of this new family cancer syndrome may provide insight into the genetic basis of these diseases.
authors.affiliation: Department of Hematology/Oncology, Children's Health Care, St. Paul, Minnesota 55102, USA.
authors.forename: J R
authors.initials: JR
authors.lastname: Priest
authors.forename: J
authors.initials: J
authors.lastname: Watterson
authors.forename: L
authors.initials: L
authors.lastname: Strong
authors.forename: V
authors.initials: V
authors.lastname: Huff
authors.forename: W G
authors.initials: WG
authors.lastname: Woods
authors.forename: R L
authors.initials: RL
authors.lastname: Byrd
authors.forename: S H
authors.initials: SH
authors.lastname: Friend
authors.forename: I
authors.initials: I
authors.lastname: Newsham
authors.forename: M D
authors.initials: MD
authors.lastname: Amylon
authors.forename: A
authors.initials: A
authors.lastname: Pappo
authors.forename: D H
authors.initials: DH
authors.lastname: Mahoney
authors.forename: C
authors.initials: C
authors.lastname: Langston
authors.forename: R
authors.initials: R
authors.lastname: Heyn
authors.forename: G
authors.initials: G
authors.lastname: Kohut
authors.forename: D R
authors.initials: DR
authors.lastname: Freyer
authors.forename: B
authors.initials: B
authors.lastname: Bostrom
authors.forename: M S
authors.initials: MS
authors.lastname: Richardson
authors.forename: J
authors.initials: J
authors.lastname: Barredo
authors.forename: L P
authors.initials: LP
authors.lastname: Dehner
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D002880:Chromosomes, Human, Pair 11; D005091:Exons; D016147:Genes, Tumor Suppressor; D006801:Humans; D007621:Karyotyping; D008168:Lung / Q000473:pathology*; D008175:Lung Neoplasms / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D018202:Pulmonary Blastoma / Q000235:genetics* / Q000473:pathology