Université de Montpellier, Montpellier, France.
Département de Pathologie, CHU Montpellier, Montpellier, France.
J Clin Pathol. 2021 Oct;74(10):650-656. doi: 10.1136/jclinpath-2020-206767. Epub 2020 Sep 10.
Diffuse large B-cell lymphoma (DLBCL) is the most common type of aggressive non-Hodgkin's lymphoma that represents a heterogeneous group of disease that is differentially characterised by clinical, molecular and cytogenetic features. , and gene rearrangements have been identified as prognostic factors in DLBCL, especially for . Nevertheless the frequency and effect of atypical/unbalanced and translocations in DLBCL is not fully documented. Here, we aimed to analyse those atypical/unbalanced rearrangements in DLBCL and to assess their prognostic impact.
We collected tumour tissue and clinical data from 97 DLBCL and used interphase fluorescence in situ hybridisation (FISH) with break-apart probe to characterise and gene pattern.
19 of 97 (19,6%) cases of DLBCL had atypical/ unbalanced gene rearrangements (14 involving gene, 5 involving gene and none involving gene). Compared with patients with simple gene rearrangement and patients without cytogenetic abnormality, patients with atypical/unbalanced gene rearrangement were in an unfavourable risk group by the International Prognostic Index (p=0039), died of disease (p=0012), harboured relapse or progression (p=0011) and had shorter overall (p=0,04), relapse free (p=0029) and event free (p=0026) survival.
We showed that patients with DLBCL with or atypical/unbalanced rearrangements constituted a group of patients with poor outcome. We also underlined the importance of FISH analyses, easily feasible in routine practise, at diagnosis of DLBCL to detect the rather frequent and clinically significant atypical/unbalanced aberrations of these genes.
弥漫性大 B 细胞淋巴瘤(DLBCL)是最常见的侵袭性非霍奇金淋巴瘤,代表了一组具有不同临床、分子和细胞遗传学特征的异质性疾病。已经发现 和 基因重排在 DLBCL 中是预后因素,特别是对于 。然而,DLBCL 中不典型/不平衡 和 易位的频率和影响尚未完全记录。在这里,我们旨在分析 DLBCL 中的这些不典型/不平衡重排,并评估其预后影响。
我们收集了 97 例 DLBCL 的肿瘤组织和临床数据,并使用间期荧光原位杂交(FISH)带有断裂探针来描述 和 基因模式。
97 例 DLBCL 中有 19 例(19.6%)存在不典型/不平衡的基因重排(14 例涉及 基因,5 例涉及 基因,无一例涉及 基因)。与具有简单基因重排和无细胞遗传学异常的患者相比,具有不典型/不平衡基因重排的患者的国际预后指数(IPI)处于不利风险组(p=0.039),死于疾病(p=0.012),发生复发或进展(p=0.011),总生存期(p=0.04)、无复发生存期(p=0.029)和无事件生存期(p=0.026)较短。
我们表明,DLBCL 患者 或 具有不典型/不平衡重排构成了预后不良的一组患者。我们还强调了 FISH 分析的重要性,在 DLBCL 的诊断中,FISH 分析易于在常规实践中进行,可以检测到这些基因中相当频繁且具有临床意义的不典型/不平衡异常。