Are there case reports supporting immunotherapy use for xeroderma pigmentosum?

[Anonymous]

Are there specific case reports supporting immunotherapy use, and do outcomes differ by cancer type for xeroderma pigmentosum?

[Sana Fathima K S]

Yes, several published cases support efficacy across different cancer types in XP patients:

*Melanoma: A patient with XP and metastatic cutaneous melanoma treated with pembrolizumab for one year achieved a rapid and complete response of the metastatic melanoma.
*Squamous cell carcinoma(SCC): A 19-year-old with locally advanced periorbital/nasal SCC was treated with cemiplimab following proton beam radiotherapy, with the case literature review concluding that anti-PD-1 monoclonal antibodies may be a promising treatment approach in this genodermatosis.
*Rare tumor types: Even non-standard XP-associated cancers have responded – a case of metastatic cutaneous angiosarcoma in an XP patient, unresponsive to three prior lines of conventional sarcoma therapy, showed a dramatic response to an ICI, guided by whole-genome sequencing that revealed a heavily mutated tumor profile.
*Pediatric cases: A 2025 review of children with XP and advanced cutaneous squamous cell carcinoma concluded anti-PD-1 inhibitors could be highly effective and safe for children with XP and advanced cutaneous squamous cell carcinoma , though it noted that eruptive keratoacanthomas and new squamous cell carcinomas have been documented as adverse cutaneous events during anti-PD-1 therapy, typically manageable with conventional local treatments like intralesional corticosteroids or cryotherapy.

References:
1. Response to pembrolizumab in a patient with xeroderma pigmentosum, metastatic cutaneous melanoma and multiple squamous cell carcinomas: a case report. Skin Health and Disease, Oxford Academic. https://academic.oup.com/skinhd/article/5/5/378/8246107
2. Immunotherapy in Xeroderma Pigmentosum: a case of advanced cutaneous squamous cell carcinoma treated with cemiplimab and a literature review. Oncotarget, 2021. https://www.oncotarget.com/article/27966/text/
3. Dramatic response of metastatic cutaneous angiosarcoma to an immune checkpoint inhibitor in a patient with xeroderma pigmentosum: whole-genome sequencing aids treatment decision in end-stage disease. PMC. https://pmc.ncbi.nlm.nih.gov/articles/PMC6824248/
4. Gambichler T, et al. Immune checkpoint inhibitors for children with xeroderma pigmentosum and advanced cutaneous squamous cell carcinoma: A case presentation and brief review. JDDG: Journal der Deutschen Dermatologischen Gesellschaft, 2025. https://onlinelibrary.wiley.com/doi/10.1111/ddg.15648
5. Fernandez ER, Tamura D, Khan SG, et al. Retrospective study of efficacy and adverse events of immune checkpoint inhibitors in 22 xeroderma pigmentosum patients with metastatic or unresectable cancers. Frontiers in Oncology, 2023. DOI: 10.3389/fonc.2023.1282823. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10634243/

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