数百种癌症相关基因的基因组分析现已成为常规癌症治疗的一部分。 DNA测序可以识别突变、突变特征和预测治疗反应的结构改变，并评估遗传性癌症风险，但它在识别细胞毒性化疗、抗体药物偶联物和免疫疗法敏感性的预测生物标志物方面作用不大。临床采用RNA测序等分子分析平台更适合识别那些最有可能对免疫疗法和药物组合产生反应的患者，这对于扩大精准肿瘤学的益处至关重要。本综述讨论了旨在替代或补充靶向 DNA 测序的创新分子和功能分析平台的潜在优势以及其临床采用的主要障碍。版权所有 © 2024 Elsevier Inc. 保留所有权利。

Genomic profiling of hundreds of cancer-associated genes is now a component of routine cancer care. DNA sequencing can identify mutations, mutational signatures, and structural alterations predictive of therapy response and assess for heritable cancer risk, but it has been less useful for identifying predictive biomarkers of sensitivity to cytotoxic chemotherapies, antibody drug conjugates, and immunotherapies. The clinical adoption of molecular profiling platforms such as RNA sequencing better suited to identifying those patients most likely to respond to immunotherapies and drug combinations will be critical to expanding the benefits of precision oncology. This review discusses the potential advantages of innovative molecular and functional profiling platforms designed to replace or complement targeted DNA sequencing and the major hurdles to their clinical adoption.Copyright © 2024 Elsevier Inc. All rights reserved.