Machairoudia, Genovefa;
Venkataraman, Anusha;
Löbel, Ulrike;
Gaur, Pritika;
Bryant, Victoria;
Cottom, Hannah;
Duncan, Catriona;
... Negretti, Guy S; + view all
(2025)
Intraocular medulloepithelioma: A rare but important mimicker of retinoblastoma.
Ocular Oncology and Pathology
10.1159/000549750.
(In press).
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Abstract
Medulloepithelioma is a rare tumor arising from the primitive medullary epithelium affecting predominantly children. Herein, we present two patients with ocular medulloepithelioma presenting in the first two years of life with strabismus, leukocoria and a large ocular mass occupying the globe. The clinical presentation and imaging initially raised suspicion for retinoblastoma and enucleation was performed. Histopathology confirmed the diagnosis of teratoid medulloepithelioma in both cases and genetic testing found a germline DICER1 mutation in one of them. These cases highlight the importance of considering medulloepithelioma in the differential diagnosis of intraocular tumors and underscore the value of genetic evaluation for underlying DICER1 mutations.
| Type: | Article |
|---|---|
| Title: | Intraocular medulloepithelioma: A rare but important mimicker of retinoblastoma |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1159/000549750 |
| Publisher version: | https://doi.org/10.1159/000549750 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| Keywords: | Medulloepithelioma; retinoblastoma; DICER1 |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10219119 |
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