Li Xijing, Lin Yang, An Licai
Department of Pathology, Yantaishan Hospital, Yantai City, Shandong, 264003, China.
Department of Hematology, Yantai Yuhuangding Hospital, No. 20 Yudong Road, Zhifu District, Yantai City, Shandong, 264000, China.
Ann Hematol. 2025 Mar;104(3):1307-1315. doi: 10.1007/s00277-024-06175-z. Epub 2025 Jan 17.
This meta-analysis aimed to assess the impact of genetic mutations, particularly in the NOTCH2 and TNFAIP3 genes, on the prognostic outcomes of Marginal Zone Lymphoma (MZL) patients. Databases, including PubMed, Embase, and Cochrane Library, were explored up to October 2023. A total of 11 studies encompassing 2,314 records were included. Outcome measures were 5-year overall survival rates (OSR), progression-free survival rates (PFSR), and tumor progression rates (TPR). NOTCH2 and TNFAIP3 mutations were prominently identified across studies. In splenic MZL (SMZL) patients with NOTCH2 mutations, there was a significant decrease in the 5-year OSR (SMD: -11.11, 95% CI: -13.39 to -8.84, P < 0.01) and PFSR (SMD: -23.49, 95% CI: -28.85 to -18.14, P < 0.01). Similarly, TNFAIP3 mutations in SMZL patients demonstrated diminished 5-year OSR (SMD: -14.78, 95% CI: -18.01 to -11.56, P < 0.01) and PFSR (SMD: -21.06, 95% CI: -27.13 to -14.98, P < 0.01). For ocular adnexal MZL (OA-MZL) patients with NOTCH2 mutations, the 5-year OSR significantly declined (SMD: -23.40, 95% CI: -28.87 to -17.93, P < 0.01). Genetic mutations, notably in NOTCH2 and TNFAIP3 genes, have discernable negative implications on the prognosis of MZL patients. Recognizing these genetic markers can guide more personalized therapeutic interventions and inform clinical prognosis.
这项荟萃分析旨在评估基因突变，特别是NOTCH2和TNFAIP3基因的突变，对边缘区淋巴瘤（MZL）患者预后结果的影响。截至2023年10月，对包括PubMed、Embase和Cochrane图书馆在内的数据库进行了检索。共纳入11项研究，涵盖2314条记录。结果指标为5年总生存率（OSR）、无进展生存率（PFSR）和肿瘤进展率（TPR）。在各项研究中均显著发现了NOTCH2和TNFAIP3突变。在NOTCH2突变的脾MZL（SMZL）患者中，5年OSR（标准化均数差：-11.11，95%可信区间：-13.39至-8.84，P＜0.01）和PFSR（标准化均数差：-23.49，95%可信区间：-28.85至-18.14，P＜0.01）显著降低。同样，SMZL患者中的TNFAIP3突变显示5年OSR（标准化均数差：-14.78，95%可信区间：-18.01至-11.56，P＜0.01）和PFSR（标准化均数差：-21.06，95%可信区间：-27.13至-14.98，P＜0.01）降低。对于NOTCH2突变的眼附属器MZL（OA-MZL）患者，5年OSR显著下降（标准化均数差：-23.40，95%可信区间：-28.87至-17.93，P＜0.01）。基因突变，特别是NOTCH2和TNFAIP3基因的突变，对MZL患者的预后有明显的负面影响。识别这些基因标志物可以指导更个性化的治疗干预并为临床预后提供参考。
