B-急性淋巴细胞白血病（B-ALL）是一种由于造血系统功能障碍导致未成熟B淋巴细胞不受控制生长而引起的血液系统疾病。 B-ALL 实体背后的一系列遗传畸变凸显了该疾病的复杂性，需要先进的遗传分析来进行精确分类和风险确定。在将新一代测序纳入标准诊断实践之前，由于传统诊断方法的局限性，高达 30% 的 B-ALL 病例未被分配到特定实体。全面的基因组分析，特别是全基因组转录组测序的出现，显着增强了我们对 B-ALL 分子异质性的理解，为探索新颖的、定制的治疗策略铺平了道路。此外，最近的技术创新，如光学基因组图谱、甲基化分析和单细胞测序，推动了癌症研究和 B-ALL 管理领域的发展。这些创新引入了新的诊断方法和预后标志物，有助于更深入、更细致地了解个体患者的疾病概况。本综述重点关注 B-ALL 的最新诊断标准和检测方法、新技术和生物标记物在提高诊断准确性方面的重要性，以及创新进步在未来 B-ALL 诊断和治疗中的预期作用。© 2024 John Wiley

B-acute lymphoblastic leukaemia (B-ALL) is a haematological disease resulting from haematopoietic system dysfunction, leading to the unchecked growth of immature B lymphoblasts. The disease's complexity is underscored by the spectrum of genetic aberrations that underlie B-ALL entities, necessitating advanced genetic analyses for precise classification and risk determination. Prior to the adoption of next-generation sequencing into standard diagnostic practices, up to 30% of B-ALL cases were not assigned to specific entities due to the limitations of traditional diagnostic methods. The advent of comprehensive genomic analysis, especially whole-genome transcriptome sequencing, has significantly enhanced our understanding of B-ALL's molecular heterogeneity, paving the way for the exploration of novel, tailored treatment strategies. Furthermore, recent technological innovations, such as optical genome mapping, methylation profiling, and single-cell sequencing, have propelled forward the fields of cancer research and B-ALL management. These innovations introduce novel diagnostic approaches and prognostic markers, facilitating a deeper, more nuanced understanding of individual patient disease profiles. This review focuses on the latest diagnostic standards and assays for B-ALL, the importance of new technologies and biomarkers in enhancing diagnostic accuracy, and the expected role of innovative advancements in the future diagnosis and treatment of B-ALL.© 2024 John Wiley & Sons Ltd.