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- Anna Petrackova, Peter Turcsanyi, Tomas Papajik, and Eva Kriegova.
- Department of Immunology, Faculty of Medicine and Dentistry, Palacký University and University Hospital Olomouc, Olomouc, Czech Republic.
- Blood Rev. 2021 Sep 1; 49: 100824.
AbstractRichter 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.Copyright © 2021 The Authors. Published by Elsevier Ltd.. All rights reserved.
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