TY - JOUR
T1 - Clinicopathological features of ophthalmic neoplasms arising in the setting of xeroderma pigmentosum
AU - Suarez, Maria J.
AU - Rivera-Michlig, Roxana
AU - Dubovy, Sander
AU - Rodriguez, Fausto J.
N1 - Publisher Copyright:
© 2015 S. Karger AG, Basel.
PY - 2016
Y1 - 2016
N2 - Background: Patients with xeroderma pigmentosum (XP) are strongly predisposed to the development of numerous cutaneous cancers. However, the extent of ocular pathology in these patients has not been adequately studied. Methods: We conducted a retrospective study of tumors involving the ocular surface and ocular adnexa from 6 XP patients. Histo-pathological evaluation and immunohistochemistry was performed using antibodies directed against the most common mutated proteins in XP (XPA, XPC, and XPD). Results: Patients included 4 males and 2 females with a mean age of 20.8 years (range 10–31) who met the clinical criteria for XP and were found to have a total of 13 neoplasms involving the ocular surface and adnexal skin; 6 squamous cell carcinomas (SCC), 3 cases of conjunctival intraepithelial neoplasia, 2 malignant melanomas, 1 basal cell carcinoma, and 1 atypical fibroxanthoma. Complete XPD loss was present in two tumors from 1 patient, suggesting a germline defect, and in the invasive component of an SCC from a second patient, suggesting a somatic alteration. No clear pattern of loss for XPA or XPC was evident. Conclusions: Our study outlines our early experience with the pathology of ocular neoplasms in XP patients. These findings deserve further exploration with genetic studies and additional patients.
AB - Background: Patients with xeroderma pigmentosum (XP) are strongly predisposed to the development of numerous cutaneous cancers. However, the extent of ocular pathology in these patients has not been adequately studied. Methods: We conducted a retrospective study of tumors involving the ocular surface and ocular adnexa from 6 XP patients. Histo-pathological evaluation and immunohistochemistry was performed using antibodies directed against the most common mutated proteins in XP (XPA, XPC, and XPD). Results: Patients included 4 males and 2 females with a mean age of 20.8 years (range 10–31) who met the clinical criteria for XP and were found to have a total of 13 neoplasms involving the ocular surface and adnexal skin; 6 squamous cell carcinomas (SCC), 3 cases of conjunctival intraepithelial neoplasia, 2 malignant melanomas, 1 basal cell carcinoma, and 1 atypical fibroxanthoma. Complete XPD loss was present in two tumors from 1 patient, suggesting a germline defect, and in the invasive component of an SCC from a second patient, suggesting a somatic alteration. No clear pattern of loss for XPA or XPC was evident. Conclusions: Our study outlines our early experience with the pathology of ocular neoplasms in XP patients. These findings deserve further exploration with genetic studies and additional patients.
KW - Basal cell carcinoma
KW - Eyelid
KW - Immunohistochemistry
KW - Melanoma
KW - Ocular surface
KW - Squamous cell carcinoma
KW - Xeroderma pigmentosum
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U2 - 10.1159/000441527
DO - 10.1159/000441527
M3 - Article
AN - SCOPUS:85048015844
SN - 2296-4681
VL - 2
SP - 112
EP - 121
JO - Ocular Oncology and Pathology
JF - Ocular Oncology and Pathology
IS - 2
ER -