AUTHOR=Lin Xiaoting , Liu Peng , Jin Min , Qi Guoyan 

TITLE=Clinical features and HLA typing of immune checkpoint inhibitor-associated myasthenia gravis, myocarditis and myositis

JOURNAL=Frontiers in Oncology

VOLUME=Volume 15 - 2025

YEAR=2025

URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2025.1646231

DOI=10.3389/fonc.2025.1646231

ISSN=2234-943X

ABSTRACT=BackgroundImmune checkpoint inhibitors (ICI) have significantly improved the therapeutic outcomes for various malignant tumors, but they may also trigger severe immune-related adverse events (irAEs), such as myositis, myocarditis and myasthenia gravis (MG). The mechanisms underlying these adverse reactions remain unclear and may be related to an individual’s genetic background. Human Leucocyte Antigen (HLA) genes play a crucial role in immune regulation, and their polymorphism is closely related to the occurrence of various autoimmune diseases.  MethodTo clarify whether irAEs is associated with specific HLA typing, we analyzed 23 patients diagnosed with myositis, myocarditis and/or MG after receiving ICI therapy, and conducted HLA high-resolution typing detection using the PCR-SBT method.ResultsAmong the 14 patients with MG combined with myositis and myocarditis, the frequencies ofHLA-DQB1*03:03 and HLA-C*01:02 loci were higher than those in the normal population. In 9 patients with myositis and myocarditis, the frequency of HLA-B*52:01 locus was higher than that in the normal population.ConclusionOur research findings reveal that patients carrying autoimmune susceptibility genes have a higher risk of developing irAEs when treated with ICI, specific HLA alleles may be associated with the risk of ICI-related MG/myositis/myocarditis, but further large-scale, multi-center validation is needed.