Judicious DICER1 testing and surveillance imaging facilitates early diagnosis and cure of pleuropulmonary blastoma. Issue 9 (13th May 2014)

• Record Type: Journal Article
• Authors: Schultz, Kris Ann P.; Harris, Anne; Williams, Gretchen M.; Baldinger, Shari; Doros, Leslie; Valusek, Patricia; Frazier, A. Lindsay; Dehner, Louis P.; Messinger, Yoav; Hill, D. Ashley
• Is Part Of: Pediatric blood & cancer. Volume 61:Issue 9(2014:Sep.)
• Page Start: 1695
• Page End: 1697
• Publication Date: 2014-05-13
• Subjects: Tumors in children -- Periodicals; Blood -- Diseases -- Periodicals; Cancer in children -- Periodicals; 618.92
• DOI: 10.1002/pbc.25092
• Languages: English
• ISSNs: 1545-5009

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="pbc25092-sec-0001" sec-type="section"> <p>Pleuropulmonary blastoma (PPB) and Sertoli–Leydig cell tumor (SLCT) are both associated with germline mutations in <italic>DICER1</italic>. In this brief report, a maternal history of SLCT led to identification of a deleterious <italic>DICER1</italic> mutation in the patient and her asymptomatic infant. Radiographic screening revealed a large Type I PPB, which was completely resected. Identification of <italic>DICER1</italic> 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. Pediatr Blood Cancer 2014;61:1695–1697. © 2014 Wiley Periodicals, Inc.</p> </sec> </abstract>