Department of Hematology, The Affiliated Hospital of Qingdao University, Qingdao, Shangdong, China.
Department of Pathology, The Affiliated Hospital of Qingdao University, Qingdao, Shangdong, China.
Ann Med. 2024 Dec;56(1):2419556. doi: 10.1080/07853890.2024.2419556. Epub 2024 Oct 26.
Transformed lymphoma occurs when indolent lymphoma transforms into more aggressive lymphoma usually associated with poor prognosis.
In this study, we analysed the immunophenotypes, prognostic factors and outcomes of 35 patients with transformed lymphoma from among 306 marginal zone lymphoma (MZL), 544 follicular lymphoma (FL) and 871 chronic lymphocytic leukaemia/small lymphocytic lymphoma (CLL/SLL) cases. In addition, we performed whole-exome sequencing study of seven transformed MZL (tMZL) cases.
Our results demonstrate that the median time from indolent lymphoma diagnosis to transformed DLBCL was 35 months (range, 14-53 months). The 5-year overall survival (OS) and progression-free survival (PFS) rates after histological transformation (HT) were 50% and 26%, respectively. Kaplan-Meier survival analysis revealed that asynchronous HT and transformed CLL/SLL (tCLL/SLL) were significant adverse prognostic factors for OS after DLBCL HT. We identified mutations involvement in chromatin remodelling ( and ) and regulators of NF-κB signalling ( and ) were affected in tMZL.
Whole-exome sequencing and copy-number analysis revealed that tMZL derives from the divergent evolution of an ancestral common progenitor clone (CPC). Collectively, this study provides clinicopathological characteristics of three common types of transformed lymphomas and the genetic profile of tMZL with diagnostic and therapeutic implications.
惰性淋巴瘤转化为侵袭性更强的淋巴瘤时发生转化型淋巴瘤，通常与预后不良有关。
本研究分析了 35 例转化型淋巴瘤患者的免疫表型、预后因素和结果，这些患者来自 306 例边缘区淋巴瘤（MZL）、544 例滤泡淋巴瘤（FL）和 871 例慢性淋巴细胞白血病/小淋巴细胞淋巴瘤（CLL/SLL）病例。此外，我们对 7 例转化型 MZL（tMZL）病例进行了全外显子组测序研究。
我们的结果表明，从惰性淋巴瘤诊断到转化为弥漫性大 B 细胞淋巴瘤的中位时间为 35 个月（范围，14-53 个月）。组织学转化（HT）后 5 年总生存率（OS）和无进展生存率（PFS）分别为 50%和 26%。Kaplan-Meier 生存分析显示，异步 HT 和转化性 CLL/SLL（tCLL/SLL）是 DLBCL HT 后 OS 的不良预后因素。我们发现染色质重塑（和）和 NF-κB 信号通路调节剂（和）的突变参与了 tMZL 的发生。
全外显子组测序和拷贝数分析显示，tMZL 源自一个祖细胞克隆（CPC）的不同进化。综上所述，本研究提供了三种常见转化型淋巴瘤的临床病理特征和 tMZL 的遗传特征，具有诊断和治疗意义。
