title: Familial pleuropulmonary blastoma in Australia.
abstract: We present three cases of pleuropulmonary blastoma (PPB) in Australian children. Each had a family history of childhood tumors which collectively included PPB, infant lung cyst, cystic nephroma, medullo-epithelioma and a Sertoli-Leydig ovarian tumor. Two of the patients also had additional malignancies: a concurrent bladder rhabdomyosarcoma and a post therapy non-PPB malignant lung tumor. In two cases, the family histories were elicited years after the PPB diagnosis. Archived pathology material allowed revision of pathologic diagnoses from decades earlier. These cases illustrate the importance of detailed inquiry into family medical history and the pleiotropy of the PPB-related familial cancer predisposition syndrome, which appears to result from heterozygous DICER1 mutations.
authors.affiliation: Department of Oncology, The Children's Hospital at Westmead, Sydney, Australia. sbhn.f.cross@gmail.com
authors.forename: Siobhan F
authors.initials: SF
authors.lastname: Cross
authors.forename: Susan
authors.initials: S
authors.lastname: Arbuckle
authors.forename: John R
authors.initials: JR
authors.lastname: Priest
authors.forename: Glenn
authors.initials: G
authors.lastname: Marshall
authors.forename: Adrian
authors.initials: A
authors.lastname: Charles
authors.forename: Luciano
authors.initials: L
authors.lastname: Dalla Pozza
mesh_terms: D001315:Australia; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008175:Lung Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D009378:Neoplasms, Multiple Primary / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D010997:Pleural Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D018202:Pulmonary Blastoma / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology