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This case report details a patient with XP and metastatic melanoma who achieved complete clinical remission with pembrolizumab, highlighting the potential efficacy of immune checkpoint inhibitors in tumours with high mutational burdens. These findings underscore a promising therapeutic avenue for this vulnerable population with limited treatment options.<\/jats:p>","DOI":"10.1093\/skinhd\/vzaf038","type":"journal-article","created":{"date-parts":[[2025,9,2]],"date-time":"2025-09-02T14:55:53Z","timestamp":1756824953000},"page":"378-381","source":"Crossref","is-referenced-by-count":0,"title":["Response to pembrolizumab in a patient with xeroderma pigmentosum, metastatic cutaneous melanoma and multiple squamous cell carcinomas: a case report"],"prefix":"10.1093","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0878-0876","authenticated-orcid":false,"given":"J\u00falia C","family":"Martins","sequence":"first","affiliation":[{"name":"Instituto do C\u00e2ncer do Estado de S\u00e3o Paulo, Universidade de S\u00e3o Paulo , S\u00e3o Paulo ,","place":["Brazil"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abna F S","family":"Vieira","sequence":"additional","affiliation":[{"name":"Instituto do C\u00e2ncer do Estado de S\u00e3o Paulo, Universidade de S\u00e3o Paulo , S\u00e3o Paulo ,","place":["Brazil"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7812-6576","authenticated-orcid":false,"given":"Olavo","family":"Feher","sequence":"additional","affiliation":[{"name":"Instituto do C\u00e2ncer do Estado de S\u00e3o Paulo, Universidade de S\u00e3o Paulo , S\u00e3o Paulo ,","place":["Brazil"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2025,9,2]]},"reference":[{"key":"2025093003013498200_vzaf038-B1","doi-asserted-by":"crossref","first-page":"176","DOI":"10.25259\/IJDVL_431_19","article-title":"Therapeutics of xeroderma pigmentosum: a PRISMA-compliant systematic review","volume":"87","author":"de Andrade","year":"2021","journal-title":"Indian J Dermatol Venereol Leprol"},{"key":"2025093003013498200_vzaf038-B2","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1136\/jmg.2010.083022","article-title":"Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair","volume":"48","author":"Bradford","year":"2011","journal-title":"J Med Genet"},{"key":"2025093003013498200_vzaf038-B3","doi-asserted-by":"crossref","first-page":"221","DOI":"10.7326\/0003-4819-80-2-221","article-title":"Xeroderma pigmentosum. 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