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Ciliary body medulloepithelioma: four cases associated with pleuropulmonary blastoma—a report from the International Pleuropulmonary Blastoma Registry
  1. John R Priest1,
  2. Gretchen M Williams2,
  3. Ricarchito Manera3,
  4. Helen Jenkinson4,
  5. Marie-Anne Bründler4,
  6. Samuel Davis5,
  7. Timothy G Murray6,
  8. Carlos A Galliani5,
  9. Louis P Dehner7
  1. 1International Pleuropulmonary Blastoma Registry, Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota, USA
  2. 2Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota, USA
  3. 3Loyola University Medical Center, Maywood, Illinois, USA
  4. 4Birmingham Children's Hospital, Birmingham, UK
  5. 5Cook Children's Medical Center, Fort Worth, Texas, USA
  6. 6Bascom Palmer Eye Institute, Miami, Florida, USA
  7. 7Lauren V. Ackerman Lab of Surgical Pathology, Barnes-Jewish & St Louis Children's Hosp, Washington University Medical Center, St. Louis, Missouri, USA
  1. Correspondence to John R Priest, International Pleuropulmonary Blastoma Registry, Children's Hospitals and Clinics of Minnesota, 2545 Chicago Ave. S., Suite 412, Minneapolis, MN 55404, USA; jprst{at}


Background and aims 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.

  • Ciliary body medulloepithelioma
  • diktyoma
  • pleuropulmonary blastoma
  • DICER1
  • ppb
  • ciliary body
  • child health (paediatrics)

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  • Competing interests JRP is named in a patent registration involving genetic sequencing methodology of DICER1 gene.

  • Ethics approval This study was conducted with the approval of The International Pleuropulmonary Blastoma Registry, Children's Hospitals and Clinics of Minnesota.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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