DZI20-172-Case-5

Sequence	Case	Clinical history	Diagnosis
1	DZI20-172-Case-1 DZI20-172-Case-1	Uveal tumor in a 60-year-old man. Uveal tumor in a 60-year-old man.	Choroidal melanoma, mixed cell type. Note the mushroom-shape to the mass with the crown of the mushroom created after the tumor expands through Bruch’s membrane. Many tumor cells are epithelioid in appearance, while others are spindle-shaped, giving the designation mixed cell type uveal melanoma. The tumor extends to the optic nerve head but does not invade it. There is substantial serous fluid under the retina (a nonrhegmatogenous retinal detachment). The tumor cells express both SOX10 and MART1. The PAS stain highlights drusen of Bruch’s membrane near the tumor, as well as some corpora amylacea of the optic nerve. KEY WORDS: uveal melanoma, choroidal melanoma, serous retinal detachment. Choroidal melanoma, mixed cell type. Note the mushroom-shape to the mass with the crown of the mushroom created after the tumor expands through Bruch’s membrane. Many tumor cells are epithelioid in appearance, while others are spindle-shaped, giving the designation mixed cell type uveal melanoma. The tumor extends to the optic nerve head but does not invade it. There is substantial serous fluid under the retina (a nonrhegmatogenous retinal detachment). The tumor cells express both SOX10 and MART1. The PAS stain highlights drusen of Bruch’s membrane near the tumor, as well as some corpora amylacea of the optic nerve. KEY WORDS: uveal melanoma, choroidal melanoma, serous retinal detachment.
2	DZI20-172-Case-2 DZI20-172-Case-2	Uveal inflammation in a blind eye of a 55-year-old patient Uveal inflammation in a blind eye of a 55-year-old patient	Chronic granulomatous uveitis; the uveal inflammation was bilateral, and thus the diagnosis was sympathetic ophthalmia. The inflammation includes areas with macrophages with pigment, eosinophils. There is relative sparing of the innermost region of the choroid. The eye had previously suffered from diabetic retinopathy, secondary iris neovascularization and glaucoma, and retinal detachments requiring detachment surgery (note the gaps in the equatorial sclera at the sites of a scleral buckle), vitrectomy, and lensectomy. KEY WORDS: cyclitic membrane, angle closure, surgery, diabetes. Chronic granulomatous uveitis; the uveal inflammation was bilateral, and thus the diagnosis was sympathetic ophthalmia. The inflammation includes areas with macrophages with pigment, eosinophils. There is relative sparing of the innermost region of the choroid. The eye had previously suffered from diabetic retinopathy, secondary iris neovascularization and glaucoma, and retinal detachments requiring detachment surgery (note the gaps in the equatorial sclera at the sites of a scleral buckle), vitrectomy, and lensectomy. KEY WORDS: cyclitic membrane, angle closure, surgery, diabetes.
3	DZI20-172-Case-3 DZI20-172-Case-3	Choroidal tumor in a 65 year old woman Choroidal tumor in a 65 year old woman	Metastatic adenocarcinoma to choroid. There is a clearly gland-forming (adenocarcinoma), plaque-like tumor within the choroid in the posterior pole. The tumor cells are non-pigmented but are surrouded by pigmented uveal melanocytes. There is an associated exudative retinal detachment. The patient had a history of ductal carcinoma of the breast. Metastatic adenocarcinoma to choroid. There is a clearly gland-forming (adenocarcinoma), plaque-like tumor within the choroid in the posterior pole. The tumor cells are non-pigmented but are surrouded by pigmented uveal melanocytes. There is an associated exudative retinal detachment. The patient had a history of ductal carcinoma of the breast.
4	DZI20-172-Case-4 DZI20-172-Case-4	Immunocompromised middle-aged patient Immunocompromised middle-aged patient	Monocytic acute myeloid leukemia (AML) and fungal endophthalmitis. This middle-aged patient had a 1-year history of monocytic acute myeloid leukemia with a mutant FLT3 gene (FLT3-ITD; ITD = internal tandem duplication). Headache and fevers led to the diagnosis of a fungal infection of the brain. Widespread infection despite anti-fungal therapy led to the death of the patient. At autopsy, the eye had the following major abnormalities: 1) leukemic infiltration predominantly of the choroid with some choroidal vessels packed with tumor cells. 2) fungal forms in the retina, sclera, choroid, and vitreous, with the vitreous forms most apparent on this H & E slide. The fungus was Lomentospora prolificans (aka scedosporium prolificans). Monocytic acute myeloid leukemia (AML) and fungal endophthalmitis. This middle-aged patient had a 1-year history of monocytic acute myeloid leukemia with a mutant FLT3 gene (FLT3-ITD; ITD = internal tandem duplication). Headache and fevers led to the diagnosis of a fungal infection of the brain. Widespread infection despite anti-fungal therapy led to the death of the patient. At autopsy, the eye had the following major abnormalities: 1) leukemic infiltration predominantly of the choroid with some choroidal vessels packed with tumor cells. 2) fungal forms in the retina, sclera, choroid, and vitreous, with the vitreous forms most apparent on this H & E slide. The fungus was Lomentospora prolificans (aka scedosporium prolificans).
5	DZI20-172-Case-5 DZI20-172-Case-5	Infant with tumor in anterior segment originally diagnosed as cataract. The tumor was suspected only during cataract surgery. Weeks later the eye was enucleated. Infant with tumor in anterior segment originally diagnosed as cataract. The tumor was suspected only during cataract surgery. Weeks later the eye was enucleated.	“Teratoid” medulloepithelioma with prominent areas of cartilaginous differentiation “Teratoid” medulloepithelioma with prominent areas of cartilaginous differentiation
6	DZI20-172-Case-6 DZI20-172-Case-6	Three-year-old with masses in the ciliary body of both eyes. No family history. Three-year-old with masses in the ciliary body of both eyes. No family history.	Bilateral nonteratoid medulloepitheliomas. Endophytic, cystic mass at the pars plicata. The tumor arises from the ciliary epithelium. There are Flexner-Wintersteiner rosettes. This case was diagnosed years prior to the recognition that mutations in the DICER1 gene predispose to medulloepitheliomas. Bilateral nonteratoid medulloepitheliomas. Endophytic, cystic mass at the pars plicata. The tumor arises from the ciliary epithelium. There are Flexner-Wintersteiner rosettes. This case was diagnosed years prior to the recognition that mutations in the DICER1 gene predispose to medulloepitheliomas.
7	DZI20-172-Case-7 DZI20-172-Case-7	4-year-old with white mass in the ciliary body and cataract. 4-year-old with white mass in the ciliary body and cataract.	Teratoid medulloepithelioma. There is a tumor arising from the ciliary epithelium with areas of cartilage. Teratoid medulloepithelioma. There is a tumor arising from the ciliary epithelium with areas of cartilage.
8	DZI20-172-Case-8 DZI20-172-Case-8	55-year-old with mass in right eye. 55-year-old with mass in right eye.	Medulloepithelioma arising from the ciliary epithelium. This case is exceptional because most intraocular medulloepitheliomas arise in children with an average age at diagnosis of 5 years. Medulloepithelioma arising from the ciliary epithelium. This case is exceptional because most intraocular medulloepitheliomas arise in children with an average age at diagnosis of 5 years.
9	DZI20-172-Case-9 DZI20-172-Case-9	25-year-old with poor vision with 1-year history of mass in ciliary body with attempted local excision. The tumor continued to grow and it extended outside the sclera at the time of enucleation. 25-year-old with poor vision with 1-year history of mass in ciliary body with attempted local excision. The tumor continued to grow and it extended outside the sclera at the time of enucleation.	Malignant medulloepithelioma. Tumor in the ciliary body extending into the anterior segment and extending through sclera. Malignant medulloepithelioma. Tumor in the ciliary body extending into the anterior segment and extending through sclera.

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