Ma Shiyue, Tang Lingjian, Tang Hui, Wu Chaoli, Pu Xue, Yang Jun, Niu Ninhong
Department of Clinical Laboratory, Affiliated Hospital of Guilin Medical University, Guangxi Zhuang Autonomous Region, Guilin, China.
Department of Rehabilitative Medicine, Affiliated Hospital of Guilin Medical University, Guangxi Zhuang Autonomous Region, Guilin, China.
Cancer Biother Radiopharm. 2025 Jan;40(1):22-30. doi: 10.1089/cbr.2024.0093. Epub 2024 Aug 29.
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. Using the search fields "," "," "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. This analysis included 13 studies covering a total of 3478 subjects. The frequency of Wilms' Tumor 1 () mutations is 6.7%-35.73%, and the frequency of mutations is 12.06%-51.1%. The remission rate of patients with mutations was less than that of patients without mutations (OR = 0.22; 95% confidence interval [CI]: 0.14, 0.36; < 0.00001; = 55%). The mutation has no statistical significance for the prognosis of AML (OR = 1.21; 95% CI: 0.93, 1.58; = 0.16; = 80%). After removing one study, the heterogeneity of the indicator (mitigation rate) among other studies of mutation was dramatically reduced (OR = 0.63; 95% CI: 0.43, 0.93; = 0.02; = 0%). Our meta-analysis shows that mutations hurt the remission rate of AML. Moreover, the impact of mutations on AML needs to be treated with caution. Gene diagnosis is critical for the prognosis and clinical management of AML.
成人急性白血病最常见的表现形式为急性髓系白血病(AML),这是一种血液系统高度异质性的恶性肿瘤。目前,基因诊断技术在众多临床领域得到广泛应用。根据近期研究,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病因。由于不同类型的白血病由非典型突变基因引起,检测这些突变或重排有助于诊断白血病并确定疾病的分子治疗靶点。利用检索词“”“”“急性髓系白血病”和“生存”,分别对中国生物医学文献数据库(CBM)、考克兰图书馆、Scopus数据库、EMBASE数据库和PubMed数据库进行了检索。采用考克兰协作网制定的偏倚风险评估方法,并结合对相关文献的系统评价。排除具有以下特征的研究:(1)出版物不完整且重复;(2)无法检索或转换数据;(3)非英文或中文文章。本分析纳入了13项研究,共涉及3478名受试者。威尔姆斯瘤1()突变的频率为6.7% - 35.73%,突变的频率为12.06% - 51.1%。突变患者的缓解率低于无突变患者(比值比[OR] = 0.22;95%置信区间[CI]:0.14,0.36;< 0.00001;= 55%)。突变对AML的预后无统计学意义(OR = 1.21;95% CI:0.93,1.58;= 0.16;= 80%)。剔除一项研究后,其他突变研究中指标(缓解率)的异质性显著降低(OR = 0.63;95% CI:0.43,0.93;= 0.02;= 0%)。我们的荟萃分析表明,突变会损害AML的缓解率。此外,突变对AML的影响需要谨慎对待。基因诊断对AML的预后和临床管理至关重要。