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Familial pleuropulmonary blastoma in Australia
Author(s) -
Cross Siobhan F.,
Arbuckle Susan,
Priest John R.,
Marshall Glenn,
Charles Adrian,
Pozza Luciano Dalla
Publication year - 2010
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.22592
Subject(s) - medicine , family history , rhabdomyosarcoma , embryonal rhabdomyosarcoma , pathology , cyst , stk11 , sarcoma , cancer , colorectal cancer , kras
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. Pediatr Blood Cancer. 2010;55:1417–1419. © 2010 Wiley‐Liss, Inc.