1. Familial pleuropulmonary blastoma in Australia.
- Author
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Cross SF, Arbuckle S, Priest JR, Marshall G, Charles A, and Dalla Pozza L
- Subjects
- Australia, Child, Preschool, Female, Humans, Infant, Lung Neoplasms diagnosis, Lung Neoplasms pathology, Male, Neoplasms, Multiple Primary diagnosis, Neoplasms, Multiple Primary pathology, Pleural Neoplasms diagnosis, Pleural Neoplasms pathology, Pulmonary Blastoma diagnosis, Pulmonary Blastoma pathology, Lung Neoplasms genetics, Neoplasms, Multiple Primary genetics, Pleural Neoplasms genetics, Pulmonary Blastoma genetics
- 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.
- Published
- 2010
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