近几十年来，急性淋巴细胞白血病（ALL）患者的治愈率显着提高，部分原因是结合了白血病基因组学、治疗反应和临床特征的风险分层，以便能够在诊断时确定哪些患者更有可能复发或患有难治性疾病。虽然 B 系 ALL (B-ALL) 患者的风险分层已经很完善，但对于 T 系 ALL (T-ALL) 患者来说，风险分层仍然具有挑战性。 T-ALL 的临床试验和真实世界数据验证的预后因素包括年龄、中枢神经系统 (CNS) 受累和微小残留病 (MRD) 反应。免疫表型，包括早期 T 细胞前体 (ETP) ALL 广泛用于对 T-ALL 进行分类，但与多变量风险模型中的结果并不总是相关。从历史上看，很少有遗传改变与结果一致相关，但最近全面、大规模的基因组分析已经确定了与独立于 MRD 的结果相关的多种遗传亚型和改变。本综述重点介绍了为确定可靠的预后生物标志物所做的持续努力，并强调了基于基因组学的分类指导未来 T-ALL 治疗策略的潜力。版权所有 © 2024 美国血液学会。

Cure rates for patients with acute lymphoblastic leukemia (ALL) have improved markedly in recent decades, in part due to risk stratification incorporating leukemia genomics, response to treatment, and clinical features to be able to determine at diagnosis which patients are more likely to relapse or have refractory disease. While risk stratification is well-developed for patients with B lineage ALL (B-ALL), it remains challenging for those with T lineage ALL (T-ALL). Prognostic factors validated across clinical trials and real-world data in T-ALL include age, central nervous system (CNS) involvement, and minimal residual disease (MRD) response. Immunophenotype, including early T-cell precursor (ETP) ALL is widely used to classify T-ALL, but is not consistently associated with outcome in multivariable risk models. Historically, few genetic alterations have been consistently associated with outcome, but recent comprehensive, large-scale genomic profiling has identified multiple genetic subtypes and alterations associated with outcome independent of MRD. This review highlights ongoing efforts to identify reliable prognostic biomarkers and underscores the potential of genomics-based classification to guide future T-ALL treatment strategies.Copyright © 2024 American Society of Hematology.