Zanetti Larissa C, Tomaz Victoria, de Souza Ingrid Ferreira, Campregher Paulo V, Hamerschlak Nelson, Kerbauy Lucila N
Hospital Israelita Albert Einstein, São Paulo, Brazil.
Genesis Genomics, São Paulo, Brazil.
Front Immunol. 2025 Nov 6;16:1653350. doi: 10.3389/fimmu.2025.1653350. eCollection 2025.
The integration of chimeric antigen receptor (CAR) therapies with precision medicine holds potential to impact the treatment landscape for acute myeloid leukemia (AML). Genetic mutations play a role in the efficacy of CAR-T and CAR-NK cells, influencing their crucial role in determining the effectiveness of these cells, as well as their proliferation, persistence, resistance, and safety. This review examines how mutations in FLT3, DNMT3A, NPM1, TP53, TET2, gene fusions involving RUNX1 and KMT2A and other key genes modulate CAR-based immunotherapies, highlighting both vulnerabilities and resistance mechanisms. Recent findings demonstrate that mutations in genes such as DNMT3A and NPM1 enhance antigen expression, thereby improving CAR targeting. In contrast, mutations in TP53 drive immune escape and resistance to therapy. Understanding these mutation-specific effects is essential for tailoring CAR therapies to individual patients, optimizing efficacy while minimizing toxicity. By leveraging genomic profiling and personalized engineering approaches, CAR therapies can be refined to overcome resistance and enhance precision in AML treatment. Future research should focus on integrating multiomic data to develop mutation-adapted CAR strategies, ensuring that patients receive the most effective and personalized immunotherapy.
嵌合抗原受体(CAR)疗法与精准医学的整合有望改变急性髓系白血病(AML)的治疗格局。基因突变在CAR-T细胞和CAR-NK细胞的疗效中发挥作用,影响它们在决定这些细胞有效性方面的关键作用,以及它们的增殖、持久性、耐药性和安全性。本综述探讨了FLT3、DNMT3A、NPM1、TP53、TET2中的突变,涉及RUNX1和KMT2A的基因融合以及其他关键基因如何调节基于CAR的免疫疗法,突出了其脆弱性和耐药机制。最近的研究结果表明,DNMT3A和NPM1等基因中的突变会增强抗原表达,从而改善CAR靶向。相比之下,TP53中的突变会导致免疫逃逸和对治疗的耐药性。了解这些特定于突变的效应对于为个体患者量身定制CAR疗法、在将毒性降至最低的同时优化疗效至关重要。通过利用基因组分析和个性化工程方法,可以改进CAR疗法以克服耐药性并提高AML治疗的精准性。未来的研究应专注于整合多组学数据以制定适应突变的CAR策略,确保患者接受最有效和个性化的免疫治疗。