慢性淋巴细胞白血病 (CLL) 患者表现出不同的临床结果。现在，越来越多的基因检测被用来帮助识别患有高风险疾病的患者并为治疗决策提供信息。这些测试包括分子细胞遗传学分析，重点关注反复发生的染色体改变，特别是 del(17p)。此外，测序还用于鉴定 TP53 突变并确定免疫球蛋白重链可变基因的体细胞超突变状态。与此同时，靶向治疗的迅速进展导致了针对 CLL 患者的新策略的实施，包括激酶和 BCL2 抑制剂。本综述探讨了当前和新兴的诊断测试，旨在识别应从靶向治疗中受益的高危患者。我们概述了现有的治疗范例，强调在遗传分层之外将正确的治疗与正确的患者相匹配的重要性，同时考虑到安全性和有效性之间的关键平衡。在为每个患者选择管理策略时，我们还会考虑实际和后勤问题。此外，我们深入研究了治疗抵抗的机制，并强调监测可测量的残留疾病以指导治疗决策的相关性。最后，我们强调汇总现实世界数据、采用全球视角并确保患者参与的必要性。总而言之，我们认为精准医疗不仅仅是精准诊断和精准治疗在 CLL 中的应用，还涵盖了患者旅程的各个方面（例如，生活方式暴露和合并症）以及他们对为患有慢性淋巴细胞白血病的患者实现真正的个性化医疗的偏好。 CLL.© 2024 作者。约翰·威利 (John Wiley) 出版的 HemaSphere

Patients with chronic lymphocytic leukemia (CLL) exhibit diverse clinical outcomes. An expanding array of genetic tests is now employed to facilitate the identification of patients with high-risk disease and inform treatment decisions. These tests encompass molecular cytogenetic analysis, focusing on recurrent chromosomal alterations, particularly del(17p). Additionally, sequencing is utilized to identify TP53 mutations and to determine the somatic hypermutation status of the immunoglobulin heavy variable gene. Concurrently, a swift advancement of targeted treatment has led to the implementation of novel strategies for patients with CLL, including kinase and BCL2 inhibitors. This review explores both current and emerging diagnostic tests aimed at identifying high-risk patients who should benefit from targeted therapies. We outline existing treatment paradigms, emphasizing the importance of matching the right treatment to the right patient beyond genetic stratification, considering the crucial balance between safety and efficacy. We also take into consideration the practical and logistical issues when choosing a management strategy for each individual patient. Furthermore, we delve into the mechanisms underlying therapy resistance and stress the relevance of monitoring measurable residual disease to guide treatment decisions. Finally, we underscore the necessity of aggregating real-world data, adopting a global perspective, and ensuring patient engagement. Taken together, we argue that precision medicine is not the mere application of precision diagnostics and accessibility of precision therapies in CLL but encompasses various aspects of the patient journey (e.g., lifestyle exposures and comorbidities) and their preferences toward achieving true personalized medicine for patients with CLL.© 2024 The Author(s). HemaSphere published by John Wiley & Sons Ltd on behalf of European Hematology Association.