Retrospective study of efficacy and adverse events of immune checkpoint inhibitors in 22 xeroderma pigmentosum patients with metastatic or unresectable cancers

• DOI: 10.3389/fonc.2023.1282823
• Publication Date: 2023-10-25T11:03:02Z
• Authors: Elvelyn R. Fernandez; Deborah Tamura; Sikandar G. Khan; Sophie Momen; Hiva Fassihi; Robert Sarkany; John J. DiGiovanna; Kenneth H. Kraemer
• Keywords: xeroderma pigmentation; immune checkpoint inhibitor (ICI); Oncology; melanoma; cancer; Neoplasms. Tumors. Oncology. Including cancer and carcinogens; genodermatosis; UV radiation; RC254-282; 3. Good health

Xeroderma pigmentosum (XP), a rare disease with defects in DNA repair genes, has >1,000-fold increased risk of ultraviolet-induced skin cancers. Immune checkpoint inhibitors (ICIs) are used for treating cancers large numbers mutations but may also promote adverse events (AEs). Deficient XP patients lead to mutations, leading enhanced efficacy cancer response or, alternatively, AE ICI. We sought compare the and ICI metastatic or unresectable that ICI-treated general population.In this retrospective study, we reviewed medical records treated United States London (UK). published reports population.Metastatic all 22 (100%) showed regression remission The types frequencies were similar those reported among population. However, two had concurrent additional did not respond ICI, recurrence progression after initial response, eight developed new during treatment.In study small sample size, demonstrated positive responses treatment was well tolerated some while being treated. ICIs can be considered patients.