Division of Hematology, Department of Translational Medicine, Università del Piemonte Orientale, Novara, Italy.
Division of Hematology, Department of Translational Medicine, Università del Piemonte Orientale, Novara, Italy.
Semin Hematol. 2024 Apr;61(2):83-90. doi: 10.1053/j.seminhematol.2024.02.002. Epub 2024 Mar 1.
Chronic lymphocytic leukemia (CLL) is the most common type of leukemia in Western countries. CLL is a highly heterogeneous disease: some patients may never require therapy and others relapse several times after different therapeutic strategies. Therefore, in CLL, prognostic markers are essential to capture high-risk patients for different clinical endpoints including early treatment requirement, early progression after BTK or BCL2 inhibitors and Richter transformation. In early stage CLL, different biological and clinical biomarkers have been identified to predict time to treatment requirement that could be used to identify the most appropriate population for early intervention clinical trial. However, at the moment, the standard of care for early stage CLL remains watch & wait since no survival benefit has been identified in clinical trials with chemoimmunotherapy and with BTK inhibitors. In patients requiring treatment TP53 disruptions identify high-risk patients who benefit the most from long-term continuous therapy with BTKi. On the opposite side of the spectrum, IGHV mutated patients devoid of TP53 disruption benefit the most from fixed-duration therapy with venetoclax-obinutuzumab. In between, the highly heterogenous subgroup of patients with IGHV unmutated genes represents the group in which further efforts are needed to identify additional prognostic biomarkers aimed at selecting patients who can benefit from fixed-duration and patients who can benefit from long term BTKi therapy. In the context of the aggressive transformation of CLL, namely Richter syndrome, the clonal relationship to the CLL counterpart represents the strongest prognostic biomarker. Clonally related Richter syndrome still represents an unmet clinical need which requires further efforts to identify new therapeutic strategies.
慢性淋巴细胞白血病(CLL)是西方国家最常见的白血病类型。CLL 是一种高度异质性疾病:一些患者可能永远不需要治疗,而另一些患者在接受不同治疗策略后会多次复发。因此,在 CLL 中,预后标志物对于捕捉包括早期治疗需求、BTK 或 BCL2 抑制剂后早期进展以及 Richter 转化等不同临床终点的高危患者至关重要。在早期 CLL 中,已经确定了不同的生物学和临床生物标志物来预测治疗需求的时间,这些标志物可用于识别最适合早期干预临床试验的人群。然而,目前,早期 CLL 的标准治疗仍然是观察和等待,因为在化疗免疫治疗和 BTK 抑制剂的临床试验中没有发现生存获益。在需要治疗的患者中,TP53 缺失可识别出最受益于 BTKi 长期持续治疗的高危患者。相反,IGHV 突变且无 TP53 缺失的患者则最受益于 venetoclax-obinutuzumab 的固定疗程治疗。在两者之间,IGHV 未突变基因的高度异质性亚组患者代表了需要进一步努力确定其他预后生物标志物的群体,这些标志物旨在选择可从固定疗程治疗中获益的患者和可从长期 BTKi 治疗中获益的患者。在 CLL 的侵袭性转化即 Richter 综合征的背景下,与 CLL 对应物的克隆关系代表了最强的预后生物标志物。克隆相关的 Richter 综合征仍然是一个未满足的临床需求,需要进一步努力来确定新的治疗策略。