title: Ciliary body medulloepithelioma association with pleuropulmonary blastoma in a familial tumor predisposition syndrome.
abstract: Ciliary body medulloepithelioma can rarely present in association with pleuropulmonary blastoma as part of a familial tumor predisposition syndrome. This is thought to occur secondary to a germline mutation in the DICER1 gene. The authors describe a case of ciliary body medulloepithelioma in a 9-year-old girl with a known medical history of pleuropulmonary blastoma.
authors.forename: Gregory D
authors.initials: GD
authors.lastname: Kramer
authors.forename: Sruthi
authors.initials: S
authors.lastname: Arepalli
authors.forename: Carol L
authors.initials: CL
authors.lastname: Shields
authors.forename: Jerry A
authors.initials: JA
authors.lastname: Shields
mesh_terms: D002648:Child; D002924:Ciliary Body / Q000473:pathology*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008175:Lung Neoplasms / Q000175:diagnosis* / Q000235:genetics; D033401:Microscopy, Acoustic; D018242:Neuroectodermal Tumors, Primitive / Q000175:diagnosis* / Q000235:genetics; D018202:Pulmonary Blastoma / Q000175:diagnosis* / Q000235:genetics; D041623:Tomography, Optical Coherence; D014604:Uveal Neoplasms / Q000175:diagnosis* / Q000235:genetics