Successful Use of Anti-PD-1 Antibody to Treat Multiple Metastatic Carcinomas in a Patient with Xeroderma Pigmentosum: Case Report and Literature Review

Case Report

Volume 5, Issue 5 (May Issue)

Successful Use of Anti-PD-1 Antibody to Treat Multiple Metastatic Carcinomas in a Patient with Xeroderma Pigmentosum: Case Report and Literature Review

Mai Itoyama^1*, Akihiro Ohara¹, Kazuki Yokoyama¹, Shun Yamamoto¹, Ken Kato¹, Taisuke Mori², Hiroshi Igaki³, Eiji Nakano^4,5, Naoya Yamazaki⁴, Kuniko Sunami⁶, Chikako Nishigori^5,7 and Yoshitaka Honma¹

¹Department of Head and Neck, Esophageal Medical Oncology, National Cancer Center Hospital, Tokyo, Japan
²Department of Diagnostic Pathology, National Cancer Center Hospital, Tokyo, Japan
³Department of Radiation Oncology, National Cancer Center Hospital, Tokyo, Japan
⁴Department of Dermatologic Oncology, National Cancer Center Hospital, Tokyo, Japan
⁵Department of Dermatology, Kobe University Graduate School of Medicine, Tokyo, Japan
⁶Department of Laboratory Medicine, National Cancer Center Hospital, Tokyo, Japan
⁷Hyogo Blood Center, Japanese Red Cross, Tokyo, Japan

^*Corresponding author: Mai Itoyama, Department of Head and Neck, Esophageal Medical Oncology, National Cancer Center Hospital, 5-1-1 Tsukiji, Chuo-ku, Tokyo, Japan. E-mail: mitoyama@ncc.go.jp

Received: March 15, 2023; Accepted: March 29, 2023; Published: April 05, 2023

Citation: Itoyama M, Ohara A, Yokoyama K, et al. Successful Use of Anti-PD-1 Antibody to Treat Multiple Metastatic Carcinomas in a Patient with Xeroderma Pigmentosum: Case Report and Literature Review. Clin Image Case Rep J. 2023; 5(3): 312.

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Successful Use of Anti-PD-1 Antibody to Treat Multiple Metastatic Carcinomas in a Patient with Xeroderma Pigmentosum: Case Report and Literature Review

Abstract

Xeroderma pigmentosum (XP) is a hereditary photosensitive disease in which skin cancers frequently develop in sun-exposed areas. Several reports on the use of immune checkpoint inhibitor (ICI) therapy in patients with difficult-to-treat XP indicate that ICIs have the potential to improve survival outcomes in these patients. This report describes a Japanese man with XP and multiple systemic metastases of carcinoma in whom ICI therapy achieved a favorable outcome. He was diagnosed with XP at the age of about 30 years. Unresectable distant metastases appeared, despite numerous cryotherapy and excisional procedures for recurrent skin tumors. Irinotecan, 5-fluorouracil, carboplatin, and cetuximab were ineffective. Finally, he was treated with nivolumab, which had a marked therapeutic effect. A literature review revealed 10 cases of XP-related cancer that had responded well to ICI. ICI therapy may be an effective tool in patients with XP and unresectable malignant lesions.

Keyword: Dermatologic oncology; Skin cancer; Head and neck cancer; Xeroderma pigmentosum; Immune checkpoint inhibitor