Judicious DICER1 testing and surveillance imaging facilitates early diagnosis and cure of pleuropulmonary blastoma

Kris Ann P. Schultz; Anne Harris; Gretchen M. Williams; Shari Baldinger; Leslie Doros; Patricia Valusek; A. Lindsay Frazier; Louis P. Dehner; Yoav Messinger; D. Ashley Hill

doi:10.1002/pbc.25092

Judicious DICER1 testing and surveillance imaging facilitates early diagnosis and cure of pleuropulmonary blastoma

Kris Ann P. Schultz, Anne Harris, Gretchen M. Williams, Shari Baldinger, Leslie Doros, Patricia Valusek, A. Lindsay Frazier, Louis P. Dehner, Yoav Messinger, D. Ashley Hill

Research output: Contribution to journal › Article › peer-review

66 Scopus citations

Abstract

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.

Original language	English
Pages (from-to)	1695-1697
Number of pages	3
Journal	Pediatric Blood and Cancer
Volume	61
Issue number	9
DOIs	https://doi.org/10.1002/pbc.25092
State	Published - Sep 2014

Keywords

DICER1
Genetic testing
Lung cysts
Pleuropulmonary blastoma
Sertoli-Leydig cell tumor

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10.1002/pbc.25092

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title = "Judicious DICER1 testing and surveillance imaging facilitates early diagnosis and cure of pleuropulmonary blastoma",

abstract = "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.",

keywords = "DICER1, Genetic testing, Lung cysts, Pleuropulmonary blastoma, Sertoli-Leydig cell tumor",

author = "Schultz, {Kris Ann P.} and Anne Harris and Williams, {Gretchen M.} and Shari Baldinger and Leslie Doros and Patricia Valusek and Frazier, {A. Lindsay} and Dehner, {Louis P.} and Yoav Messinger and Hill, {D. Ashley}",

year = "2014",

month = sep,

doi = "10.1002/pbc.25092",

language = "English",

volume = "61",

pages = "1695--1697",

journal = "Pediatric Blood and Cancer",

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T1 - Judicious DICER1 testing and surveillance imaging facilitates early diagnosis and cure of pleuropulmonary blastoma

AU - Schultz, Kris Ann P.

AU - Harris, Anne

AU - Williams, Gretchen M.

AU - Baldinger, Shari

AU - Doros, Leslie

AU - Valusek, Patricia

AU - Frazier, A. Lindsay

AU - Dehner, Louis P.

AU - Messinger, Yoav

AU - Hill, D. Ashley

PY - 2014/9

Y1 - 2014/9

N2 - 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.

AB - 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.

KW - DICER1

KW - Genetic testing

KW - Lung cysts

KW - Pleuropulmonary blastoma

KW - Sertoli-Leydig cell tumor

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U2 - 10.1002/pbc.25092

DO - 10.1002/pbc.25092

M3 - Article

C2 - 24821309

AN - SCOPUS:84904438192

SN - 1545-5009

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SP - 1695

EP - 1697

JO - Pediatric Blood and Cancer

JF - Pediatric Blood and Cancer

IS - 9

ER -

Judicious DICER1 testing and surveillance imaging facilitates early diagnosis and cure of pleuropulmonary blastoma

Abstract

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