title: Metachronous Type I pleuropulmonary blastoma and atypical choroid plexus papilloma in a young child.
abstract: Pleuropulmonary blastoma (PPB) is a rare childhood tumor, often associated with germline DICER1 mutations and a risk for development of other benign and malignant tumors, a constellation termed DICER1 syndrome. A 1-year-old male was diagnosed with Type I PPB and screened regularly thereafter for detection of intrathoracic and intraabdominal disease. Ten months after diagnosis of PPB, he presented with headaches and vomiting. He was diagnosed with atypical choroid plexus papilloma, a lesion not previously reported with PPB. The presence of central nervous system symptoms in patients with PPB or a phenotype suggestive of DICER1 syndrome should prompt early intracranial imaging.
authors.affiliation: MD Program, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada.
authors.forename: David J
authors.initials: DJ
authors.lastname: Liu
authors.affiliation: Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.|Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
authors.forename: Renee
authors.initials: R
authors.lastname: Perrier
authors.affiliation: Department of Radiology, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
authors.forename: Xing-Chang
authors.initials: XC
authors.lastname: Wei
authors.affiliation: Department of Pathology, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
authors.forename: Jeffrey T
authors.initials: JT
authors.lastname: Joseph
authors.affiliation: Department of Oncology, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada. doug.strother@ahs.ca.|Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada. doug.strother@ahs.ca.
authors.forename: Douglas
authors.initials: D
authors.lastname: Strother
mesh_terms: D053487:DEAD-box RNA Helicases / Q000235:genetics; D006801:Humans; D007223:Infant; D008175:Lung Neoplasms / Q000175:diagnosis* / Q000473:pathology; D008297:Male; D016609:Neoplasms, Second Primary / Q000175:diagnosis* / Q000473:pathology; D020288:Papilloma, Choroid Plexus / Q000175:diagnosis* / Q000473:pathology; D018202:Pulmonary Blastoma / Q000175:diagnosis* / Q000473:pathology; D043244:Ribonuclease III / Q000235:genetics
chemical_list: C408087:DICER1 protein, human; D043244:Ribonuclease III; D053487:DEAD-box RNA Helicases
keywords: DICER1; atypical choroid plexus papilloma; brain tumor; pleuropulmonary blastoma