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Adenocarcinoma of the Retinal Pigment Epithelium Clinicopathologic Correlation With Paradoxical Immunohistochemical Findings

Jerry A. Shields, MD1; Ralph C. Eagle Jr, MD2; Jonathan Dutton, MD3; Hormoz Ehya, MD4; Carol L. Shields, MD1
[+] Author Affiliations
1Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania
2Department of Pathology, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania
3Department of Ophthalmology, University of North Carolina, Chapel Hill
4Department of Pathology, Fox Chase Cancer Center, Philadelphia, Pennsylvania
JAMA Ophthalmol. 2014;132(10):1249-1252. doi:10.1001/jamaophthalmol.2014.2369.
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True neoplasms can arise from pigment epithelium of the iris, ciliary body, and retina (retinal pigment epithelium [RPE]).14 We report a large adenocarcinoma of RPE that was a diagnostic challenge based on clinical features, cytopathology, and immunohistochemistry. However, with routine histopathology of the enucleated eye, the diagnosis of RPE adenocarcinoma was established.

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Figure 1.
Clinical and Cytologic Features of Pigmented Intraocular Tumor

A, External image shows the dilated pupil with a black intraocular mass in the nasal quadrant. B, B-scan ultrasonogram shows the acoustically dense intraocular mass. Fine-needle aspiration cytopathology of the tumor (Papanicolaou stain, original magnification ×200) (C) demonstrates large epithelioid cells (Papanicolaou stain, original magnification ×250) (D) with abundant coarse melanin granules, enlarged nuclei, and prominent nucleoli (cell block, hematoxylin-eosin, original magnification ×250) (E).

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Figure 2.
Gross and Microscopic Pathology of Intraocular Tumor

A, Photograph of the enucleated eye shows the intensely pigmented ciliochoroidal tumor resting on the inner surface of the ciliary body and choroid. B, Photomicrograph shows the tumor on the inner surface of the artifactually detached choroid (hematoxylin-eosin, original magnification ×2). The tumor contains linear bands of atypical epithelial cells (hematoxylin-eosin, original magnification ×250) (C), which rest on periodic acid–Schiff–positive septa (arrowheads) (hematoxylin-eosin, original magnification ×400) (D). The tumor cells have large nuclei and prominent nucleoli. They show intense positive immunoreactivity for cytokeratin 7 (E), melan-A (F), and microphthalmia transcription factor 2 (MITF2) (G) (original magnification ×250). Nuclei of the underlying retinal pigment epithelium also stain with MITF. H, Cells show mild immunoreactivity for HMB45 (original magnification ×100).

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