Department of Immunology, Faculty of Medicine and Dentistry, Palacký University and University Hospital Olomouc, Olomouc, Czech Republic.
Department of Hemato-Oncology, Faculty of Medicine and Dentistry, Palacký University and University Hospital Olomouc, Olomouc, Czech Republic.
Blood Rev. 2021 Sep;49:100824. doi: 10.1016/j.blre.2021.100824. Epub 2021 Mar 12.
Richter transformation (RT) is the development of aggressive lymphoma - most frequently diffuse large B-cell lymphoma (DLBCL) and rarely Hodgkin lymphoma (HL) - arising on the background of chronic lymphocytic leukaemia (CLL). Despite recent advances in CLL treatment, RT also develops in patients on novel agents, usually occurring as an early event. RT incidence is lower in CLL patients treated with novel agents in the front line compared to relapsed/refractory cases, with a higher incidence in patients with TP53 disruption. The genetic heterogeneity and complexity are higher in RT-DLBCL than CLL; the genetics of RT-HL are largely unknown. In addition to TP53, aberrations in CDKN2A, MYC, and NOTCH1 are common in RT-DLBCL; however, no distinct RT-specific genetic aberration is recognised yet. RT-DLBCL on ibrutinib is frequently associated with BTK and PLCG2 mutations. Here, we update on genetic analysis, diagnostics and treatment options in RT in the era of novel agents.
里希特转化(RT)是慢性淋巴细胞白血病(CLL)背景下发生的侵袭性淋巴瘤——最常见的是弥漫性大 B 细胞淋巴瘤(DLBCL),很少见霍奇金淋巴瘤(HL)。尽管 CLL 的治疗最近取得了进展,但新型药物治疗的患者也会发生 RT,通常是早期事件。与复发/难治性病例相比,新型药物一线治疗的 CLL 患者的 RT 发生率较低,TP53 缺失的患者发生率更高。RT-DLBCL 的遗传异质性和复杂性高于 CLL;RT-HL 的遗传学在很大程度上尚不清楚。除了 TP53 之外,CDKN2A、MYC 和 NOTCH1 的异常在 RT-DLBCL 中也很常见;然而,目前尚未识别出明确的 RT 特异性遗传异常。在伊布替尼上的 RT-DLBCL 常与 BTK 和 PLCG2 突变相关。在这里,我们更新了新型药物时代 RT 的遗传分析、诊断和治疗选择。