儿童急性淋巴细胞白血病：当前认知与进展的叙述性综述

PURPOSE OF REVIEW: This review aims to provide an update on current knowledge regarding paediatric acute lymphoblastic leukaemia (ALL), focusing on recent advancements in diagnosis and treatment, as well as future directions in the field. RECENT FINDINGS: ALL is the most frequently diagnosed paediatric malignancy, with advances leading to a 90% survival rate. The heterogeneity of childhood ALL requires a precise diagnostic algorithm incorporating morphological, immunophenotypic, and cytogenetic analyses. Research is exploring next-generation sequencing and artificial intelligence-aided techniques for future diagnostic approaches. Despite these advancements, global disparities in healthcare access hinder prompt diagnosis and management. The pathophysiology of ALL involves chromosomal and genetic alterations which disrupt cell-cycle regulation and result in uncontrolled lymphoblast proliferation. Environmental factors also contribute to leukaemogenesis.

Risk-stratification based on genetic subtypes has significant implications for risk-based therapy. Chemotherapy is administered in three phases: induction, consolidation, and maintenance, with prophylactic intrathecal chemotherapy considered essential. For high-risk, refractory, or relapsed ALL, haematopoietic stem cell transplantation and novel therapies such as tyrosine kinase inhibitors, chimeric antigen receptor T-cell therapy, and blinatumomab immunotherapy, have improved outcomes.

Ongoing clinical trials aim to further improve treatment efficacy, reduce toxicity, and increase survival. Although prevention strategies for ALL exist at three levels, the supporting evidence remains limited, highlighting a need for further research. Continued research and clinical trials are essential to addressing the gaps treatment efficacy and prevention strategies. Efforts to improve global healthcare access and integrate novel diagnostic and therapeutic approaches are crucial for advancing outcomes for paediatric patients with ALL.