Ocular Metastatic Renal Carcinoma Presenting With Proptosis.
Metastatic renal carcinoma is the third most common source of ocular and second most common source of orbital metastases. This is the first published case of von Hippel-Lindau (vHL) disease that developed renal cell carcinoma metastatic to an eye with a retinal hemangioblastoma. A 73-year-old woman had a history of vHL disease that included prior retinal hemangioblastomas, 2 cerebellar hemangioblastomas, and bilateral renal cell carcinomas with sacral metastasis. After presenting with progressive, painful proptosis secondary to a large mass observable by ocular CT, an enucleation-orbitotomy was performed, and the surgical specimen was sent for histopathological analysis. The ophthalmic renal metastatic tumor, like the primary tumor, was a clear cell variant that involved both the eyeball and orbit in continuity. The intraocular component was larger than the extraocular portion, which was interpreted as an outward extension of an initial retinal metastasis that probably first settled within a hemangioblastoma. Clusters of ectatic ghost vessels with thickened walls produced by periodic acid Schiff-positive, redundant basement membrane material were partially infiltrated by tumor cells at their periphery, thereby lending some support for this hypothesis. Immunohistochemical positivity for the biomarkers cytokeratin 18, vimentin, carbonic anhydrase IX, PAX2, and PAX 8 confirmed the diagnosis. The patient has refused further treatment. Her anophthalmic socket has comfortably retained a porous polyethylene implant without clinical evidence of local recurrence during 5 months of follow up.
*David G. Cogan Laboratory of Ophthalmic Pathology, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary; †Harvard Medical School; and ‡Ophthalmic Plastic Surgery, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, U.S.A.
Ruju
R
Rai
Frederick A
FA
Jakobiec
Aaron
A
Fay
D000368:Aged; D014408:Biomarkers, Tumor / Q000378:metabolism; D002292:Carcinoma, Renal Cell / Q000175:diagnosis / Q000378:metabolism / Q000556:secondary*; D005094:Exophthalmos / Q000175:diagnosis*; D015353:Eye Enucleation; D005260:Female; D018325:Hemangioblastoma / Q000175:diagnosis; D006801:Humans; D007124:Immunoenzyme Techniques; D007680:Kidney Neoplasms / Q000378:metabolism / Q000473:pathology*; D020273:Orbital Implants; D009918:Orbital Neoplasms / Q000175:diagnosis / Q000378:metabolism / Q000556:secondary*; D019572:Retinal Neoplasms / Q000175:diagnosis; D006623:von Hippel-Lindau Disease / Q000175:diagnosis
D014408:Biomarkers, Tumor