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Eye Tumors
Published in Dongyou Liu, Tumors and Cancers, 2017
Medulloepithelioma is a unilateral congenital disease, arising from the epithelium of the medullary tube, particularly the ciliary body. On ultrasound, the tumor displays cystic spaces and a lack of calcification. Histologically, the tumor is composed of epithelium arranged in cords and sheets separated by cystic spaces containing proteinaceous material. In the teratoid form, heterotopic elements including skeletal muscle and cartilage are observed. In the nonteratoid (malignant) form, poorly differentiated neuroblastic cells, increased mitotic activity, sarcomatous areas, and invasion of other ocular tissue are noted.
Ocular and adnexal tumours
Published in Pat Price, Karol Sikora, Treatment of Cancer, 2014
John L. Hungerford, P. Nicholas Plowman
This is a rare tumour of the non-pigmented ciliary epithelium, presenting in children and young adults. The tumour is usually benign or of low-grade malignancy, with between one-quarter and two-thirds of medulloepitheliomas containing malignant cells.49,50 Medulloepithelioma has been reported outside the uveal tract in the retina51 and optic nerve,52 but it usually arises in the iris and ciliary body.
Malignant teratoid intraocular ciliary body medulloepithelioma in a 5-year-old male with corresponding somatic copy number alteration profile of aqueous humor cell-free DNA
Published in Ophthalmic Genetics, 2022
Sarah Pike, Rahul Iyengar, Chen-Ching Peng, Patricia Chevez-Barrios, Brianne Brown, Rachana Shah, Jaclyn Biegel, Venkata Yellapantula, Aaron Nagiel, Bibiana Jin Reiser, Liya Xu, Jesse L. Berry
Intraocular ciliary body medulloepithelioma (CBME) is a rare, nonhereditary congenital tumor arising from primitive medullary epithelium, often involving the nonpigmented ciliary body (1–4). In 75–90% of cases, the tumor manifests during the first decade of life, with an average age of presentation between 2 and 10 years (2,4,5). CBME may be associated with a DICER1 pathogenic variant in 5% of cases (2). CBME is classified as teratoid or nonteratoid, with the former distinguished by the presence of heteroplastic elements, and it can be further divided into benign and malignant subtypes (4,6). The tumor is slow-growing, and most patients remain asymptomatic until it becomes large enough to be visualized through the pupil, distort the iris, or invade adjacent tissues (4). Typical secondary effects include cataract and glaucoma, often with rubeosis iridis (2,6,7). CBME is commonly misdiagnosed as retinoblastoma (Rb) given the clinicopathologic similarities—currently, histopathology is the only definitive means of differentiating between these tumor types (8). Here, we present a case of malignant teratoid CBME in a 5-year-old male with calcification and retinal detachment. We include the somatic copy number alteration (SCNA) profile of cell-free DNA (cfDNA) in an aqueous humor (AH) sample collected from the tumor containing eye at enucleation.
A typical anterior retinoblastoma: diagnosis by aqueous humor cell-free DNA analysis
Published in Ophthalmic Genetics, 2022
Stephanie N. Kletke, Sameh Soliman, Hilary Racher, Ashwin Mallipatna, Furqan Shaikh, Kamiar Mireskandari, Brenda L. Gallie
There was no relevant medical or family history and review of systems and uveitis work-up were unremarkable. On follow up, a solid, elevated, spherical anterior chamber nodule and superotemporal vitreous debris, in the absence of an identifiable retinal lesion, were identified (Figure 1). She was referred to ocular oncology given the above atypical clinical features. Two weeks later, she was examined under anesthesia (EUA) and IOP was 16 mmHg OD on medical management. Multiple seeds were identified for 360 degrees in the anterior chamber, along the lens equator and in the canal of Petit (Figure 2a). Temporally, a mildly elevated pars plana lesion with focal fine vitreous seeding was noted by scleral indentation. Ultrasound biomicroscopy (UBM) confirmed the lesion was anterior to the anterior hyaloid and B-scan ultrasound showed intralesional calcification. Fundus exam was otherwise normal. Differential diagnoses included retinoblastoma, medulloepithelioma, and pars planitis. Cytology of AH from anterior chamber paracentesis was inconclusive for malignancy.
Pediatric embryonal brain tumors in the molecular era
Published in Expert Review of Molecular Diagnostics, 2020
Bryan K. Li, Salma Al-Karmi, Annie Huang, Eric Bouffet
Historically, the diagnosis of CNS-PNET or sPNET was generally applied to all EBTs that presented in the supratentorial compartment. A notable exception to this applied to PB (though itself occasionally labeled as a pineal region PNET). The recent discovery of specific molecular markers for now separate entities (ATRT and C19MC-altered tumors/ETMR) formerly under the umbrella of CNS-PNET/sPNET have since left a heterogenous group of tumors without robust identifying features. The uncertain nature of this group is reflected in the definitions of medulloepithelioma (without C19MC-alterations), CNS neuroblastoma, CNS ganglioneuroblastoma, and CNS embryonal tumor, NOS in the 2016 WHO classification [5]. Given our evolving understanding of these entities, the use of retrospective data to interpret this group’s clinical features and prognosis remains challenging. With this caveat, historical reports of non-pineal CNS-PNETs depict an aggressive disease primarily affecting young children [6]. Among 37 non-infant (age >3 years) cases of institutionally diagnosed non-pineal CNS-PNETs treated in CCG trial 99,701, five-year PFS/OS was 39%/44%.