Clinicopathological Features of Ophthalmic Neoplasms Arising in the Setting of Xeroderma Pigmentosum

Abstract

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. Histopathological 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.

Xeroderma Pigmentosum: A Model for Human Premature Aging

“…Eyelid and ocular cancers are another XP premature aging feature. Whereas BCC and SCC are the most frequent ocular malignancies, melanoma, conjunctival intraepithelial neoplasia, and atypical fibroxanthoma are also reported (Suarez et al, 2015). In Brooks et al (2013), 10% of patients had ocular cancers.…”

Ocular Human Papillomavirus Infections

“…Xeroderma pigmentosum, a rare genetic disorder resulting from defects in DNA repair after UVB damage, is also a risk factor for the development of OSSN. 49 OSSN, in particular conjunctival SCC, occurs more frequently in immunosuppressed patients, including organ transplant patients and those with HIV infection/AIDS. [50][51][52] In areas with a high rate of HIV infection, there is a much higher prevalence of OSSN.…”

Oral mucosa involvement in pediatric patients with xeroderma pigmentosum: a comprehensive review

“…Both BCC (Figure 6c) and SCC (Figure 6d) may occur on palpebral conjunctiva in addition to eyelids. These tumors may become devastating, leading to blindness and invasion of the orbit and brain tissue 78,80 . Specialized and long‐term care may be needed for these patients 80 .…”

“…78,80 Specialized and long-term care may be needed for these patients. 80 Specifically, one limbal SCC and one pigmented mass in limbus, 29,47 two melanomas on medial canthus 21 and conjunctiva, 22 and multiple SCCs on the conjunctiva 17,42,46,76 have been reported in pediatric XP patients. The majority of XP patients with oral mucosal lesions included in this review (110/ 130, 84.6%) also exhibited ocular findings, such as keratitis, blindness, and symblepharon.…”