title: Glioneuroma associated with colobomatous dysplasia of the anterior uvea and retina. A case simulating medulloepithelioma.
abstract: The left eye of an otherwise healthy child was enucleated at the age of 2 months because of an enlarging mass involving the temporal iris, ciliary body, and anterior retina. The initial histopathologic diagnosis was malignant medulloepithelioma with orbital extension. Closer study revealed a superotemporal chorioretinal and ciliary body coloboma; dysplasia of the adjacent retina; a glioneuromatous mass replacing the temporal ciliary body, chamber angle structures, and iris and extending through the sclera to involve the insertion of the lateral rectus muscle; neuroepithelial elements resembling medulloepithelioma; and abnormally developed iris pigment epithelium, and dilator and sphincter muscles. Immunohistochemistry demonstrated that the main mass consisted of neurons positive for neuron-specific enolase (NSE), synaptophysin and neurofilaments, and glial cells expressing vimentin, glial fibrillary acidic protein, and S-100 protein. The neuroepithelial elements reacted positively for cytokeratins and S-100 protein, in addition to NSE and vimentin, suggesting ciliary epithelial rather than embryonic retinal origin. The tumor was rediagnosed as glioneuroma, which in this case was part of a widespread colobomatous dysplasia of the anterior uvea and retina. The patient is alive without metastases or local recurrence 2 years following enucleation and subtotal removal of the lesion.
authors.affiliation: Department of Ophthalmology, Helsinki University Central Hospital, Finland.
authors.forename: T
authors.initials: T
authors.lastname: Kivelä
authors.forename: L
authors.initials: L
authors.lastname: Kauniskangas
authors.forename: P
authors.initials: P
authors.lastname: Miettinen
authors.forename: A
authors.initials: A
authors.lastname: Tarkkanen
mesh_terms: D002924:Ciliary Body / Q000473:pathology*; D003103:Coloboma / Q000150:complications* / Q000473:pathology; D003951:Diagnostic Errors; D004848:Epithelium / Q000473:pathology; D015353:Eye Enucleation; D005729:Ganglioneuroma / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D008297:Male; D018241:Neuroectodermal Tumors, Primitive, Peripheral / Q000175:diagnosis*; D012160:Retina / Q000002:abnormalities / Q000473:pathology; D014602:Uvea / Q000002:abnormalities / Q000473:pathology; D014604:Uveal Neoplasms / Q000150:complications / Q000175:diagnosis* / Q000473:pathology