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.
authors.affiliation: International Ovarian and Testicular Stromal Tumor Registry, Children's Hospital and Clinics of Minnesota, Minneapolis, Minnesota; International Pleuropulmonary Blastoma Registry, Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota; Department of Oncology, Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota.
authors.forename: Kris Ann P
authors.initials: KA
authors.lastname: Schultz
authors.forename: Anne
authors.initials: A
authors.lastname: Harris
authors.forename: Gretchen M
authors.initials: GM
authors.lastname: Williams
authors.forename: Shari
authors.initials: S
authors.lastname: Baldinger
authors.forename: Leslie
authors.initials: L
authors.lastname: Doros
authors.forename: Patricia
authors.initials: P
authors.lastname: Valusek
authors.forename: A Lindsay
authors.initials: AL
authors.lastname: Frazier
authors.forename: Louis P
authors.initials: LP
authors.lastname: Dehner
authors.forename: Yoav
authors.initials: Y
authors.lastname: Messinger
authors.forename: D Ashley
authors.initials: DA
authors.lastname: Hill
mesh_terms: D000328:Adult; D002675:Child, Preschool; D053487:DEAD-box RNA Helicases / Q000235:genetics*; D042241:Early Diagnosis; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D011379:Prognosis; D018202:Pulmonary Blastoma / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery*; D043244:Ribonuclease III / Q000235:genetics*; D018310:Sertoli-Leydig Cell Tumor / Q000473:pathology / Q000601:surgery*; D014057:Tomography, X-Ray Computed
chemical_list: C408087:DICER1 protein, human; D043244:Ribonuclease III; D053487:DEAD-box RNA Helicases
keywords: DICER1; Sertoli-Leydig cell tumor; genetic testing; lung cysts; pleuropulmonary blastoma