Efficacy of pembrolizumab in a patient with xeroderma pigmentosum variant and advanced cutaneous squamous-cell carcinoma

Figures & data

Figure 1. Tumor response of advanced cutaneous squamous cell carcinoma to pembrolizumab with clinical photography (A, B) and cervical MRI images (C-F): Right ulcerative parotid mass, severe helioderma (A) and right surrounding mastoid and parotid mass (C), associated with multiple cervical necrotic lymph nodes (E) before treatment. Major clinical response with complete healing of the skin (B), decrease of the parotid mass (D) and disappearance of several cervical necrotic lymph nodes (F), 3 months after pembrolizumab introduction.

Table 1. XP patients with cutaneous neoplasms response to immune checkpoint inhibitor.

Observation	Patient	Treated skin cancer	Immunotherapy	Outcome
Hauschild et al. 2017 [4]	XP-E	Metastatic MM Multiple localized SCCs BCCs AKs	Pembrolizumab	MM: Partial response (C4)
Deinlein et al. 2017 [5]	XP	Metastatic SCC	Pembrolizumab	SCC: Partial response (C3)
Salomon et al. 2018 [6]	XP-C	Metastatic MM Multiple localized SCCs, BCCs and AKs	Pembrolizumab	MM: Partial response (C4)
Steineck et al. 2019 [7]	XP-C	Locally advanced and metastatic SCC	Pembrolizumab	SCC: Partial reponse (C5)
Ameri et al.  2019 [8]	XP-C	Unresectable SCC + BCC	Pembrolizumab	SCC: complete response (C8) BCC: no response
	XP-E	Unresectable SCC	Pembrolizumab	SCC: Partial response
	XP-V	Metastatic MM Unresectable SCC	Ipilimumab followed by Pembrolizumab	MM: Partial response SCC: Stability for 31 months and then progression A new onset eyebrow BCC surgically removed
Rubatto et al. 2021 [9]	XP	Locally advanced SCC, Localized SCCs and BCCs	Cemiplimab + Proton beam radiotherapy	SCC: partial response (C7)
Present Case	XP-V	Metastatic SCC	Pembrolizumab	SCC: partial response (C3)

AK: Actinic Keratosis; BCC: Basal Cell Carcinoma; C: number of cycle; ICI: Immune Checkpoint Inhibitor; M: Male; MM: Metastatic Melanoma; MT: Metastasis; NMSC: Non Melanoma Skin Cancer; SCC: Squamous Cell Carcinoma; XP: Xeroderma pigmentosum; XP-V: Xeroderma pigmentosum variant.

Hauschild A, Eichstaedt J, Möbus L, et al. Regression of melanoma metastases and multiple non-melanoma skin cancers in xeroderma pigmentosum by the PD1-antibody pembrolizumab. Eur J Cancer. 2017;77:84–87.

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Deinlein T, Lax SF, Schwarz T, et al. Rapid response of metastatic cutaneous squamous cell carcinoma to pembrolizumab in a patient with xeroderma pigmentosum: Case report and review of the literature. Eur J Cancer. 2017;83:99–102.

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Salomon G, Maza A, Boulinguez S, et al. Efficacy of anti-programmed cell death-1 immunotherapy for skin carcinomas and melanoma metastases in a patient with xeroderma pigmentosum. Br J Dermatol. 2018;178(5):1199–1203. 59.

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Steineck A, Krumm N, Sarthy JF, et al. Response to pembrolizumab in a patient with xeroderma pigmentosum and advanced squamous cell carcinoma. J Clin Oncol Precis Oncol. 2019;3:PO.19.00028.

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Ameri AH, Mooradian MJ, Emerick KS, et al. Immunotherapeutic strategies for cutaneous squamous cell carcinoma prevention in xeroderma pigmentosum. Br J Dermatol. 2019;181(5):1095–1097.

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Rubatto M, Merli M, Avallone G, et al. Immunotherapy in xeroderma pigmentosum: a case of advanced cutaneous squamous cell carcinoma treated with cemiplimab and a literature review. Oncotarget. 2021;12(11):1116–1121.

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