期刊
PEDIATRIC BLOOD & CANCER
卷 61, 期 9, 页码 1695-1697出版社
WILEY-BLACKWELL
DOI: 10.1002/pbc.25092
关键词
DICER1; genetic testing; lung cysts; pleuropulmonary blastoma; Sertoli-Leydig cell tumor
资金
- National Institutes of Health [NCI R01CA143167]
- Parson's Foundation
- St. Baldrick's Foundation
- Pine Tree Apple Tennis Classic
- Hyundai Hope on Wheels
- Randy Shaver Community Cancer Fund
Pleuropulmonary blastoma (PPB) and Sertoli-Leydig cell tumor (SLCT) are both associated with germline mutations in DICER1. In this brief report, a maternal history of SLCT led to identification of a deleterious DICER1 mutation in the patient and her asymptomatic infant. Radiographic screening revealed a large Type I PPB, which was completely resected. Identification of DICER1 mutation carriers and imaging of children at risk for PPB may allow detection of PPB in its earliest and most curable form, leading to increased likelihood of surgical cure and decreased risks of treatment-related late effects. (C) 2014 Wiley Periodicals, Inc.
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