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Maria Jose Suarez B, Fausto J Rodriguez; Clinicopathologic Features of Ophthalmic Neoplasms Arising in the Setting of Xeroderma Pigmentosum. Invest. Ophthalmol. Vis. Sci. 2014;55(13):1847.
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To determine the clinical, pathologic and immunohistochemical (IHC) features of neoplasms involving the ocular surface and/or adnexa in three patients satisfying clinical criteria for Xeroderma Pigmentosum (XP).
We retrieved formalin-fixed paraffin-embedded material from tumors involving the ocular surface and ocular adnexa from 3 patients with XP who underwent clinical evaluation at our institution. Clinical information was obtained by retrospective chart review. Histopathological evaluation was performed, as well as immunohistochemistry in all available cases using antibodies directed against the most common mutated proteins in XP patients (XPA, XPC, and XPD). Scoring of nuclear immunoreactivity was performed in 3-tiered scale: 2=moderate to strong staining; 1=weak/focal staining; 0=negative staining.
Three (9, 13, 28 years old) patients of African descent with XP (2 males, 1 female) and ocular and adnexal tumors were studied. Patient 1 had two squamous cell carcinomas (SCC) in the conjunctiva (one in situ and one invasive). Patient 2 had invasive basal cell carcinoma (BCC), SCC in situ of the eyelid, and orbital malignant melanoma with recurrence. Patient 3 had invasive SCC of the eyelid. Nuclear expression of XPA, XPC, and XPD proteins in normal eyelid skin, particularly in basal epithelium and adnexal glands, was noted in controls. Nuclear staining for XPD was also present in normal conjunctiva. In patient 1, immunoexpression of XPA and XPC was present in both tumors, while XPD was lost in the invasive (but not in situ) SCC. Conversely, patient 2 had XPA loss in invasive tumors (BCC, melanoma) and retained XPC and XPD. Positive immunoreactivity for XPA, XPC and XPD in SCC in situ was present. Finally, patient 3 showed retained XPA, XPC, and XPD expression in SCC.
Our study outlines our early experience with pathology of ocular neoplasms in XP patients. XPC immunoreactivity in all tumors suggests that XPC genetic alterations may not be a common feature in our population. Immunohistochemistry for XPA and XPD may be more useful in the study of invasive tumors compared to in situ carcinoma. These findings deserve further exploration with genetic studies and additional patients.
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