Li Zhongqi, Yu Fang, Ye Wenle, Mao Liping, Huang Jiansong, Shao Yang, Yan Junrong, Yu Wenjuan, Jin Jie, Wang Jinghan
The Department of Surgical Oncology, The First Affiliated Hospital, Zhejiang University, Hangzhou, China.
Department of Pathology, The First Affiliated Hospital of Zhejiang University, Hangzhou, China.
Front Oncol. 2021 Dec 9;11:746577. doi: 10.3389/fonc.2021.746577. eCollection 2021.
Diffuse large B-cell lymphoma (DLBCL) is a heterogeneous group of large lymphoid B cell malignancy with distinct clinical and genetic features. Recently, mutations were identified in DLBCL cases by Next-generation sequencing (NGS), but the clinical features and prognostic impact were not systematically studied. Here, genes in 161 DLBCL samples were sequenced by NGS. The prognostic value of mutations was assessed in the context of clinical and laboratory factors, such as international prognostic index (IPI), cell-of-origin classification, double expression of BCL2 and c-MYC. The combined data from three Western cohorts were used to validate these results. As a result, mutations were found in 17(10.6%) patients, and three patients had a hotspot mutation of c.7541_7542delCT. The presence of mutations was significantly associated with poor complete response and progression free survival(PFS), which was independent of established clinical and laboratory parameters. In addition, 30 (1.92%) of 1562 patients treated with R-CHOP regimen in those combined Western cohorts had mutations. Meta-analysis of the Western cohorts confirmed that mutations were also associated with poor PFS and OS. In conclusion, DLBCL patients with the mutations have worse PFS and OS, and the mutations can be used as an independent predictor for patients with DLBCL.
弥漫性大B细胞淋巴瘤（DLBCL）是一组异质性的大淋巴细胞B细胞恶性肿瘤，具有独特的临床和遗传特征。最近，通过二代测序（NGS）在DLBCL病例中发现了突变，但对其临床特征和预后影响尚未进行系统研究。在此，我们通过NGS对161例DLBCL样本中的基因进行了测序。在国际预后指数（IPI）、细胞起源分类、BCL2和c-MYC双表达等临床和实验室因素的背景下，评估了这些突变的预后价值。来自三个西方队列的合并数据用于验证这些结果。结果发现，17例（10.6%）患者存在这些突变，3例患者有c.7541_7542delCT热点突变。这些突变的存在与完全缓解率低和无进展生存期（PFS）差显著相关，且独立于既定的临床和实验室参数。此外，在那些合并的西方队列中，接受R-CHOP方案治疗的1562例患者中有30例（1.92%）存在这些突变。对西方队列的荟萃分析证实，这些突变也与PFS和总生存期（OS）差相关。总之，存在这些突变的DLBCL患者的PFS和OS较差，这些突变可作为DLBCL患者的独立预测指标。
