A standardized assessment of Tumor Mutational Burden (TMB) poses challenges across diverse tumor histologies, treatment modalities, and testing platforms, requiring careful consideration to ensure consistency and reproducibility. Despite clinical trials demonstrating favorable responses to immune checkpoint inhibitors (ICIs), not all patients with elevated TMB exhibit benefits, and certain tumors with a normal TMB may respond to ICIs. Therefore, a comprehensive understanding of the intricate interplay between TMB and the tumor microenvironment, as well as genomic features, is crucial to refine its predictive value. Bioinformatics advancements hold potential to improve the precision and cost-effectiveness of TMB assessments, addressing existing challenges. Similarly, integrating TMB with other biomarkers and employing comprehensive, multiomics approaches could further enhance its predictive value. Ongoing collaborative endeavors in research, standardization, and clinical validation are pivotal in harnessing the full potential of TMB as a biomarker in the clinic settings.
肿瘤突变负荷（TMB）的标准化评估在不同肿瘤组织学类型、治疗模式和检测平台中均面临挑战，需要审慎考量以确保结果的一致性和可重复性。尽管临床试验显示肿瘤突变负荷升高者对免疫检查点抑制剂（ICIs）具有良好应答，但并非所有高TMB患者均能获益，而某些TMB正常的肿瘤也可能对ICIs产生反应。因此，深入理解TMB与肿瘤微环境及基因组特征之间复杂的相互作用，对于完善其预测价值至关重要。生物信息学的发展有望提升TMB评估的精确性和成本效益，从而应对现有挑战。同样，将TMB与其他生物标志物相结合，并采用综合性的多组学方法，可能进一步增强其预测效能。当前在科研协作、标准化建设和临床验证方面的持续努力，对于充分发挥TMB作为临床生物标志物的潜力具有关键意义。
肿瘤(癌症)患者之家