title: Ciliary body medulloepithelioma: four cases associated with pleuropulmonary blastoma--a report from the International Pleuropulmonary Blastoma Registry.
abstract: OBJECTIVE
  Ciliary body medulloepithelioma (CBME) is a rare embryonal ocular tumour of children under age 10 years. Pleuropulmonary blastoma (PPB) is a rare embryonal lung tumour in young children and the sentinel disease of the PPB Family Tumour and Dysplasia Syndrome, a distinctive predisposition leading to unusual dysontogenetic-dysplastic and neoplastic conditions in PPB patients and their relatives. Germline mutations of DICER1 gene, a key regulator of gene silencing, underlie this syndrome. CBME occurs with PPB. The authors' aim was to identify CBME cases associated with PPB.
  
  
  METHODS
  The authors evaluated International PPB Registry and literature PPB cases for CBME, including review of pathologic specimens.
  
  
  RESULTS
  Four CBME were observed among 550-600 PPB cases; three in patients and one in a parent. One CBME was clinically diagnosed; three were confirmed pathologically (one benign teratoid CBME; one benign non-teratoid CBME; one case, details not available).
  
  
  CONCLUSIONS
  These observations suggest that CBME is a manifestation of the tumour predisposition associated with PPB. Paediatric oncologists and ophthalmologists should be aware that CBME can occur in PPB patients or their relatives and that CBME may indicate a hereditable tumour predisposition for a child or family.
authors.affiliation: International Pleuropulmonary Blastoma Registry, Children's Hospitals and Clinics of Minnesota, Minneapolis, MN 55404, USA. jprst@prodigy.net
authors.forename: John R
authors.initials: JR
authors.lastname: Priest
authors.forename: Gretchen M
authors.initials: GM
authors.lastname: Williams
authors.forename: Ricarchito
authors.initials: R
authors.lastname: Manera
authors.forename: Helen
authors.initials: H
authors.lastname: Jenkinson
authors.forename: Marie-Anne
authors.initials: MA
authors.lastname: Bründler
authors.forename: Samuel
authors.initials: S
authors.lastname: Davis
authors.forename: Timothy G
authors.initials: TG
authors.lastname: Murray
authors.forename: Carlos A
authors.initials: CA
authors.lastname: Galliani
authors.forename: Louis P
authors.initials: LP
authors.lastname: Dehner
mesh_terms: D001932:Brain Neoplasms / Q000453:epidemiology / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D002924:Ciliary Body / Q000473:pathology*; D005260:Female; D020868:Gene Silencing; D006801:Humans; D008297:Male; D018242:Neuroectodermal Tumors, Primitive / Q000453:epidemiology / Q000235:genetics / Q000473:pathology*; D018202:Pulmonary Blastoma / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D012042:Registries