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Judicious DICER1 testing and surveillance imaging facilitates early diagnosis and cure of pleuropulmonary blastoma
Author(s) -
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
Publication year - 2014
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.25092
Subject(s) - medicine , cancer registry , pediatrics , family medicine , cancer
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. Pediatr Blood Cancer 2014;61:1695–1697. © 2014 Wiley Periodicals, Inc.