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Acta Oncologica Volume 61, 2022 - Issue 9
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Letters to the Editor: Clinical Oncology

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

Aymeric Hennemanna Dermatology Department and Inserm Unit 1098, Franche Comté University and University Hospital, Besancon, France
,
Marie Agnès Collonge Rameb Genetic Department, University Hospital, Besancon, France
,
Eve Puzenata Dermatology Department and Inserm Unit 1098, Franche Comté University and University Hospital, Besancon, France
,
Cécile Gedc Univ. Bordeaux, INSERM, BMGIC, Bordeaux, France
,
Sylvain Harbond Saint Vincent Clinic, Besançon, France
,
François Aubina Dermatology Department and Inserm Unit 1098, Franche Comté University and University Hospital, Besancon, FranceCorrespondence[email protected]
&
Charlée Nardina Dermatology Department and Inserm Unit 1098, Franche Comté University and University Hospital, Besancon, France
 show all
Pages 1140-1142 | Received 22 Jun 2022, Accepted 31 Jul 2022, Published online: 11 Aug 2022

References

  • Leung AK, Barankin B, Lam JM, et al. Xeroderma pigmentosum: an updated review. DIC. 2022;11:1–17.
  • Opletalova K, Bourillon A, Yang W, et al. Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations. Hum Mutat. 2014;35(1):117–128.
  • Martens MC, Emmert S, Boeckmann L. Xeroderma pigmentosum: Gene variants and splice variants. Genes (Basel). 2021;12(8):1173.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • Dousset L, Poizeau F, Robert C, et al. Positive association between location of melanoma, ultraviolet signature, tumor mutational burden, and response to anti-PD-1 therapy. J Clin Oncol Precis Oncol. 2021;5:PO.21.00084.

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