| Autor: |
Jun Li, Wei Wang, Wei Zhang, Yang W Shao, Lu Shen, Liang Chen, Wen Gao, Jiali Xu, Jiani C Yin, Renhua Guo, Qianghu Wang, Lingxiang Wu, Shidai Jin, Xinyin Liu, Qixing Gong, Chunxiao Sun, Zidun Wang |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
|
| Zdroj: |
Journal for ImmunoTherapy of Cancer, Vol 10, Iss 11 (2022) |
| Druh dokumentu: |
article |
| ISSN: |
2051-1426 |
| DOI: |
10.1136/jitc-2022-005970 |
| Popis: |
The mechanism(s) of immune checkpoint inhibitor (ICI)-induced myasthenia gravis (MG), an immune-related adverse event (irAE) that is fatal and limits subsequent ICI use, remain unexplored. Here, through comparative genomic analysis, we identified a pathogenic p.S467C germline variant in SLC22A5 in a thymoma case with ICI-induced MG, which was found to be associated with fatty acid oxidation through its regulation on L-carnitine levels. Remarkably, ICI rechallenge with L-carnitine pretreatment led to durable response without MG-related symptoms. Thus, we provide the first clinical evidence of genetic test-directed irAE management, which integrates individualized ICI treatment into the evolving paradigm of cancer management. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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