{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T22:15:58Z","timestamp":1767910558365,"version":"3.49.0"},"reference-count":16,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2015,11,12]],"date-time":"2015-11-12T00:00:00Z","timestamp":1447286400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2015,11,12]],"date-time":"2015-11-12T00:00:00Z","timestamp":1447286400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ocul Oncol Pathol"],"published-print":{"date-parts":[[2016]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Background:&lt;\/i&gt;&lt;\/b&gt; 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. &lt;b&gt;&lt;i&gt;Methods:&lt;\/i&gt;&lt;\/b&gt; 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). &lt;b&gt;&lt;i&gt;Results:&lt;\/i&gt;&lt;\/b&gt; 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. &lt;b&gt;&lt;i&gt;Conclusions:&lt;\/i&gt;&lt;\/b&gt; 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.<\/jats:p>","DOI":"10.1159\/000441527","type":"journal-article","created":{"date-parts":[[2015,11,11]],"date-time":"2015-11-11T22:01:21Z","timestamp":1447279281000},"page":"112-121","source":"Crossref","is-referenced-by-count":15,"title":["Clinicopathological Features of Ophthalmic Neoplasms Arising in the Setting of Xeroderma Pigmentosum"],"prefix":"10.1159","volume":"2","author":[{"given":"Maria J.","family":"Suarez","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roxana","family":"Rivera-Michlig","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sander","family":"Dubovy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fausto J.","family":"Rodriguez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2015,11,12]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/nrc1652"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2663"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.123.2.241"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1007\/s00417-011-1679-8"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.dnarep.2006.09.008"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2012.12.044"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.78.4.295"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1007\/s12105-011-0303-x"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(197306)31:6<1541::AID-CNCR2820310635>3.0.CO;2-6"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.2350\/06-06-0103.1"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1940.01490160030005"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1097\/IOP.0b013e31821c7323"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1097\/DAD.0b013e3181af0a5e"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016\/j.survophthal.2011.03.001"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1097\/ICL.0b013e318223394e"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2011.426"}],"container-title":["Ocular Oncology and Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/441527","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/441527","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/441527","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:01:52Z","timestamp":1745431312000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000441527"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,11,12]]},"references-count":16,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2015,12,1]]},"published-print":{"date-parts":[[2015,12,3]]}},"URL":"https:\/\/doi.org\/10.1159\/000441527","archive":["Portico"],"relation":{},"ISSN":["2296-4681","2296-4657"],"issn-type":[{"value":"2296-4681","type":"print"},{"value":"2296-4657","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,11,12]]}}}