The last five decades have witnessed significant improvement in diagnostics, treatment and management of children with acute lymphoblastic leukaemia (ALL). These advancements have become possible through progress in our understanding of the genetic and biological background of ALL, resulting in the introduction of risk-adapted treatment and novel therapeutic targets, e.g., tyrosine kinase inhibitors for BCR::ABL1-positive ALL. Further advances in the taxonomy of ALL and the discovery of new genetic biomarkers and therapeutic targets, as well as the introduction of targeted and immunotherapies into the frontline treatment protocols, may improve management and outcome of children with ALL. In this review we describe the current developments in the (cyto)genetic diagnostics and management of children with ALL, and provide an overview of the most important advances in the genetic classification of ALL. Furthermore, we discuss perspectives resulting from the development of new techniques, including artificial intelligence (AI).

过去五年，儿童急性淋巴细胞白血病 (ALL) 的诊断、治疗和管理取得了显着进步。这些进步是通过我们对 ALL 遗传和生物学背景的了解的进展而成为可能的，从而引入了风险适应治疗和新的治疗靶点，例如 BCR::ABL1 的酪氨酸激酶抑制剂- 全部阳性。ALL 分类学的进一步进展、新的遗传生物标志物和治疗靶点的发现，以及将靶向和免疫疗法引入一线治疗方案，可能会改善 ALL 儿童的治疗和结果。在这篇综述中，我们描述了 ALL 儿童（细胞）遗传学诊断和治疗的当前进展，并概述了 ALL 遗传分类的最重要进展。此外，我们还讨论了包括人工智能（AI）在内的新技术发展带来的观点。