Wei Qing, Fang Hong, Jing James M, Segura-Rivera Roman, Medeiros L Jeffrey, Wang Wei
Department of Hematopathology The University of Texas MD Anderson Cancer Center Houston Texas USA.
Department of Abdominal Imaging The University of Texas MD Anderson Cancer Center Houston Texas USA.
EJHaem. 2024 Oct 8;5(6):1265-1268. doi: 10.1002/jha2.1024. eCollection 2024 Dec.
Chronic lymphocytic leukemia (CLL) is an indolent low-grade B-cell neoplasm that generally responds well to treatment. Rarely, CLL cases exhibit an IGH::CCND1 rearrangement, presenting a diagnostic challenge in distinguishing between clonal evolution within CLL and an independent mantle cell lymphoma. We report a case of CLL with the emergence of an IGH::CCND1 rearrangement and mutations associated with treatment resistance, including TP53, BTK, and BCL2, during disease progression. Immunophenotypic, cytogenetic, and molecular analyses support that these alterations are secondary events within the CLL clone. This case demonstrates dynamic clonal selection and expansion in response to treatments, which, in turn, contributes to treatment resistance.
慢性淋巴细胞白血病（CLL）是一种惰性低度B细胞肿瘤，通常对治疗反应良好。很少有CLL病例表现出IGH::CCND1重排，这在区分CLL内的克隆进化与独立的套细胞淋巴瘤时带来了诊断挑战。我们报告了1例CLL病例，在疾病进展过程中出现了IGH::CCND1重排以及与治疗耐药相关的突变，包括TP53、BTK和BCL2。免疫表型、细胞遗传学和分子分析支持这些改变是CLL克隆内的继发事件。该病例显示了对治疗的动态克隆选择和扩增，进而导致治疗耐药。
