背景:成人急性白血病最常表现为急性髓细胞性白血病(AML),一种高度异质性的血液系统恶性肿瘤。基因诊断技术的应用目前在许多临床领域很普遍。根据最近的研究,白血病细胞中特定基因突变或重排的存在是该疾病的主要原因。由于不同类型的白血病是由非典型突变基因引起的,检测这些突变或重排可以帮助诊断白血病并确定疾病的分子治疗靶点。方法:使用搜索字段\"WT1,\"\"DNMT3A,急性髓系白血病,“和”生存,“CBM,科克伦图书馆,Scopus,EMBASE,和PUBMED数据库分别进行了审查。CochraneCollaboration开发的评估偏倚风险的方法与相关文献的系统评估结合使用。排除具有以下特征的研究:(1)不完整和重复的出版物,(2)无法检索或转换数据,(3)非英文或中文文章。结果:这项分析包括13项研究,共涵盖3478名受试者。Wilms\'肿瘤1(WT1)突变的频率为6.7%-35.73%,DNMT3A突变的频率为12.06%-51.1%。有WT1突变的患者的缓解率低于无WT1突变的患者(OR=0.22;95%置信区间[CI]:0.14,0.36;p<0.00001;I2=55%)。DNMT3A突变对AML预后无统计学意义(OR=1.21;95%CI:0.93,1.58;p=0.16;I2=80%)。删除一项研究后,在其他DNMT3A突变研究中,指标的异质性(缓解率)显著降低(OR=0.63;95%CI:0.43,0.93;p=0.02;I2=0%).结论:我们的荟萃分析表明,WT1突变会损害AML的缓解率。此外,DNMT3A突变对AML的影响需要谨慎对待.基因诊断对AML的预后和临床治疗至关重要。
Background: Adult acute leukemia most commonly manifests as acute myeloid leukemia (AML), a highly heterogeneous malignant tumor of the blood system. The application of genetic diagnostic technology is currently prevalent in numerous clinical sectors. According to recent research, the presence of specific gene mutations or rearrangements in leukemia cells is the primary cause of the disease. As different types of leukemia are caused by atypical mutated genes, testing for these mutations or rearrangements can help diagnose leukemia and identify the disease\'s molecular targets for treatment. Methods: Using the search fields \"
WT1,\" \"DNMT3A,\" \"Acute myeloid leukemia,\" and \"survival,\" the CBM, Cochrane Library, Scopus, EMBASE, and PUBMED databases were separately reviewed. The methodology for evaluating the risk of bias developed by the Cochrane Collaboration was used in conjunction with a methodical evaluation of pertinent literature. Excluded studies with the following characteristics: (1) incomplete and repetitive publications, (2) unable to retrieve or convert data, (3) non-English or Chinese articles. Results: This analysis included 13 studies covering a total of 3478 subjects. The frequency of Wilms\' Tumor 1 (
WT1) mutations is 6.7%-35.73%, and the frequency of DNMT3A mutations is 12.06%-51.1%. The remission rate of patients with
WT1 mutations was less than that of patients without
WT1 mutations (OR = 0.22; 95% confidence interval [CI]: 0.14, 0.36; p < 0.00001; I2 = 55%). The DNMT3A mutation has no statistical significance for the prognosis of AML (OR = 1.21; 95% CI: 0.93, 1.58; p = 0.16; I2 = 80%). After removing one study, the heterogeneity of the indicator (mitigation rate) among other studies of DNMT3A mutation was dramatically reduced (OR = 0.63; 95% CI: 0.43, 0.93; p = 0.02; I2 = 0%). Conclusions: Our meta-analysis shows that
WT1 mutations hurt the remission rate of AML. Moreover, the impact of DNMT3A mutations on AML needs to be treated with caution. Gene diagnosis is critical for the prognosis and clinical management of AML.