Efficacy of anti-programmed cell death-1 immunotherapy for skin carcinomas and melanoma metastases in a patient with xeroderma pigmentosum

Abstract

Xeroderma pigmentosum (XP) is an orphan disease of poor prognosis. We report one case of parallel efficacy with anti-programmed cell death-1 (PD-1) antibody on both melanoma and skin carcinoma in a patient with XP. A 17-year-old patient presented with metastatic melanoma and multiple nonmelanoma skin cancers. He was treated with pembrolizumab, a monoclonal anti-PD-1 antibody, at a dose of 2 mg kg , every 3 weeks. Parallel therapeutic efficacy of anti-PD-1 was observed in metastatic melanoma and skin carcinomas, and maintained at week 24. This observation suggests anti-PD-1 may be considered in patients with XP and metastatic melanoma in addition to advanced nonmelanoma skin cancer.

Angiosarcoma arising on the scalp in a Korean patient with xeroderma pigmentosum variant type

“…Recently, antiprogrammed cell death-1 (PD-1) immunotherapy has shown efficacy against AS. 12 In addition, a recent report showed successful results in treating MM and nonmelanoma skin cancers with PD-1 inhibitor in patient with XP, 13 suggesting that PD-1 inhibitor can be considered as alternative therapy for AS in patients with XP who have difficulties in using radiotherapy or chemotherapy.…”

Pattern of response of unresectable and metastatic cutaneous squamous cell carcinoma to programmed death‐1 inhibitors: A review of the literature

“…In this case, a rapid complete response after only three cycles was evidenced. Other reported cases of pembrolizumab in XP include, first of all Hauschild et al () (LE 4 following Oxford CEBM Levels of Evidence) subsequently Salomon et al () (LE 4 following Oxford CEBM Levels of Evidence) and they demonstrated a parallel therapeutic response of metastatic melanoma and primary cutaneous carcinomas. About adverse events, the most frequent are fatigue, rash, diarrhea, nausea or abdominal pain, and dysthyroidism.…”

Genetisch bedingte Hauterkrankungen – Xeroderma pigmentosum und das CEDNIK-Syndrom

“…Chirurgische Exzision ist die erste Wahl bei der Behandlung invasiver Hautkrebse, die aufgrund der Häufigkeit der benötigten Eingriffe so klein wie möglich erfolgen sollte [2]. Weitere Behandlungsmöglichkeiten beinhalten die topische Applikation von 5 %-iger Imiquimod-Creme, die ein schweres Erythem und Erosionen hervorrufen kann [15 -23], Cremes mit xenogenen Reparaturenzymen (Photolyase oder T4-Endonuklease) [24 -26], SMO-Inhibitoren [27,28], PD-1-Antikörper [29,30] und orale Retinoide [31,32]. [37].…”