PMID- 37954081
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20231122
IS  - 2234-943X (Print)
IS  - 2234-943X (Electronic)
IS  - 2234-943X (Linking)
VI  - 13
DP  - 2023
TI  - Retrospective study of efficacy and adverse events of immune checkpoint 
      inhibitors in 22 xeroderma pigmentosum patients with metastatic or unresectable 
      cancers.
PG  - 1282823
LID - 10.3389/fonc.2023.1282823 [doi]
LID - 1282823
AB  - BACKGROUND: 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 with large numbers of 
      mutations but may also promote adverse events (AEs). Deficient DNA repair in XP 
      patients may lead to increased numbers of mutations, leading to enhanced efficacy 
      of cancer response or, alternatively, to increased AE in response to ICI. We 
      sought to compare the efficacy and AE of ICI in XP patients with metastatic or 
      unresectable cancers to that of ICI-treated patients in the general population. 
      METHODS: In this retrospective study, we reviewed medical records of XP patients 
      treated in the United States and in London (UK). We also reviewed published 
      reports of ICI-treated XP patients and patients in the general population. 
      RESULTS: Metastatic or unresectable cancers in all 22 (100%) XP patients showed 
      regression or remission in response to ICI. The types and frequencies of AE in XP 
      patients were similar to those reported among ICI-treated patients in the general 
      population. However, two XP patients had concurrent additional cancers that did 
      not respond to ICI, two XP patients had cancer recurrence or progression after 
      initial response, and eight XP patients developed new skin cancers during or 
      after ICI treatment. CONCLUSION: In this retrospective study with small sample 
      size, XP patients demonstrated positive responses to ICI and the treatment was 
      well tolerated but some patients developed new skin cancers while being treated. 
      ICIs can be considered in treating metastatic or unresectable cancers in XP 
      patients.
CI  - Copyright (c) 2023 Fernandez, Tamura, Khan, Momen, Fassihi, Sarkany, DiGiovanna and 
      Kraemer.
FAU - Fernandez, Elvelyn R
AU  - Fernandez ER
AD  - DNA Repair Section, Laboratory of Cancer Biology and Genetics, Center for Cancer 
      Research, National Cancer Institute, Bethesda, MD, United States.
FAU - Tamura, Deborah
AU  - Tamura D
AD  - DNA Repair Section, Laboratory of Cancer Biology and Genetics, Center for Cancer 
      Research, National Cancer Institute, Bethesda, MD, United States.
FAU - Khan, Sikandar G
AU  - Khan SG
AD  - DNA Repair Section, Laboratory of Cancer Biology and Genetics, Center for Cancer 
      Research, National Cancer Institute, Bethesda, MD, United States.
FAU - Momen, Sophie
AU  - Momen S
AD  - National Xeroderma Pigmentosum Service, St John's Institute of Dermatology, Guy's 
      and St Thomas' NHS Foundation Trust, London, United Kingdom.
FAU - Fassihi, Hiva
AU  - Fassihi H
AD  - National Xeroderma Pigmentosum Service, St John's Institute of Dermatology, Guy's 
      and St Thomas' NHS Foundation Trust, London, United Kingdom.
FAU - Sarkany, Robert
AU  - Sarkany R
AD  - National Xeroderma Pigmentosum Service, St John's Institute of Dermatology, Guy's 
      and St Thomas' NHS Foundation Trust, London, United Kingdom.
FAU - DiGiovanna, John J
AU  - DiGiovanna JJ
AD  - DNA Repair Section, Laboratory of Cancer Biology and Genetics, Center for Cancer 
      Research, National Cancer Institute, Bethesda, MD, United States.
FAU - Kraemer, Kenneth H
AU  - Kraemer KH
AD  - DNA Repair Section, Laboratory of Cancer Biology and Genetics, Center for Cancer 
      Research, National Cancer Institute, Bethesda, MD, United States.
LA  - eng
PT  - Journal Article
DEP - 20231025
PL  - Switzerland
TA  - Front Oncol
JT  - Frontiers in oncology
JID - 101568867
PMC - PMC10634243
OTO - NOTNLM
OT  - UV radiation
OT  - cancer
OT  - genodermatosis
OT  - immune checkpoint inhibitor (ICI)
OT  - immunotherapy
OT  - melanoma
OT  - squamous cell carcinoma
OT  - xeroderma pigmentation
COIS- The authors declare that the research was conducted in the absence of any 
      commercial or financial relationships that could be construed as a potential 
      conflict of interest.
EDAT- 2023/11/13 06:43
MHDA- 2023/11/13 06:44
PMCR- 2023/01/01
CRDT- 2023/11/13 04:24
PHST- 2023/08/24 00:00 [received]
PHST- 2023/10/05 00:00 [accepted]
PHST- 2023/11/13 06:44 [medline]
PHST- 2023/11/13 06:43 [pubmed]
PHST- 2023/11/13 04:24 [entrez]
PHST- 2023/01/01 00:00 [pmc-release]
AID - 10.3389/fonc.2023.1282823 [doi]
PST - epublish
SO  - Front Oncol. 2023 Oct 25;13:1282823. doi: 10.3389/fonc.2023.1282823. eCollection 
      2023.