Han Xueya, Liu Wei, Kang Zhongyu, Li Daihong
Department of Blood Transfusion, Tianjin First Central Hospital, School of Medicine, Nankai University, 24 Fukang Road, Nankai, Tianjin, China.
Ann Hematol. 2024 Dec;103(12):4943-4952. doi: 10.1007/s00277-024-05899-2. Epub 2024 Jul 19.
GATA2 deficiency syndrome is a heterogeneous disorder characterized by a high risk of developing myelodysplastic syndrome (MDS)/acute myeloid leukaemia (AML). We conducted a meta-analysis of the literature to explore the prognostic significance of GATA2 mutations in patients diagnosed with MDS/AML, as previous studies have yielded conflicting findings regarding the impact of GATA2 mutations on patient outcomes. We conducted a comprehensive literature search of databases such as PubMed, Embase, the Cochrane Library, and the Web of Science to obtain studies on the prognostic significance of GATA2 mutations in patients with MDS/AML that were published through January 2024. We extracted the hazard ratio (HR) and 95% confidence interval (CI) for overall survival (OS), disease-free survival (DFS), and event-free survival (EFS). The meta-analysis was conducted by choosing either a fixed-effect model or a random-effect model, depending on the variability observed among the studies. A total of 13 cohort studies were included in the final meta-analysis, including 2714 patients with MDS, of whom 644 had GATA2 mutations. The results revealed that GATA2 mutations had an adverse impact on OS (HR = 1.54, 95% CI = 1.08-2.18, P = 0.02) and EFS (HR = 1.32, 95% CI = 1.01-1.72, P = 0.04), but no significant effect on DFS (HR = 1.21, 95% CI = 0.89-1.64, P = 0.23). GATA2 mutations were associated with a significantly shorter OS in MDS patients (HR = 2.56, 95% CI = 1.42-4.06, P = 0.002) but not in AML patients (HR = 1.08, 95% CI = 0.92-1.26, P = 0.37). Our meta-analysis revealed that GATA2 mutations are associated with unfavourable outcomes in patients with MDS/AML. Furthermore, patients harbouring these mutations should be prioritized for aggressive therapeutic interventions.
GATA2缺陷综合征是一种异质性疾病，其特征是发生骨髓增生异常综合征（MDS）/急性髓系白血病（AML）的风险很高。我们对文献进行了荟萃分析，以探讨GATA2突变在诊断为MDS/AML的患者中的预后意义，因为先前的研究在GATA2突变对患者预后的影响方面得出了相互矛盾的结果。我们对PubMed、Embase、Cochrane图书馆和科学网等数据库进行了全面的文献检索，以获取截至2024年1月发表的关于GATA2突变在MDS/AML患者中的预后意义的研究。我们提取了总生存期（OS）、无病生存期（DFS）和无事件生存期（EFS）的风险比（HR）和95%置信区间（CI）。根据研究间观察到的变异性，选择固定效应模型或随机效应模型进行荟萃分析。最终的荟萃分析共纳入13项队列研究，包括2714例MDS患者，其中644例有GATA2突变。结果显示，GATA2突变对OS（HR = 1.54，95% CI = 1.08 - 2.18，P = 0.02）和EFS（HR = 1.32，95% CI = 1.01 - 1.72，P = 0.04）有不利影响，但对DFS无显著影响（HR = 1.21，95% CI = 0.89 - 1.64，P = 0.23）。GATA2突变与MDS患者显著缩短的OS相关（HR = 2.56，95% CI = 1.42 - 4.06，P = 0.002），但与AML患者无关（HR = 1.08，95% CI = 0.92 - 1.26，P = 0.37）。我们的荟萃分析表明，GATA2突变与MDS/AML患者的不良预后相关。此外，携带这些突变的患者应优先接受积极的治疗干预。
