Ciliary Body Medulloepithelioma Association With Pleuropulmonary Blastoma in a Familial Tumor Predisposition Syndrome

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-yea...

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Published inJournal of pediatric ophthalmology and strabismus Vol. 51; no. 6; pp. e48 - e50
Main Authors Kramer, Gregory D., Arepalli, Sruthi, Shields, Carol L., Shields, Jerry A.
Format Journal Article
LanguageEnglish
Published Thorofare, NJ SLACK Incorporated 16.07.2014
SLACK INCORPORATED
Subjects
Cataracts
Child
Ciliary Body - pathology
Congenital diseases
Cysts
Eyes & eyesight
Female
Genetic Predisposition to Disease
Genetics
Humans
Lung Neoplasms - diagnosis
Lung Neoplasms - genetics
Lungs
Medical screening
Microscopy, Acoustic
Neuroectodermal Tumors, Primitive - diagnosis
Neuroectodermal Tumors, Primitive - genetics
Patients
Pulmonary Blastoma - diagnosis
Pulmonary Blastoma - genetics
Retinal detachment
Tomography, Optical Coherence
Tumors
Ultrasonic imaging
Uveal Neoplasms - diagnosis
Uveal Neoplasms - genetics
Visual acuity
United States > US
Pennsylvania
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Summary: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. [J Pediatr Ophthalmol Strabismus 2014;51:e48–e50.]
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ISSN:0191-3913
1938-2405
1938-2405
DOI:10.3928/01913913-20140709-03