Rostov State Medical University, Department of Hematology and Transfusiology (with courses in Clinical Laboratory Diagnosis, Genetics and Laboratory Genetics), 29, Nakhichevansky lane, Rostov-on-Don 344022, Russia.
Southern Federal University, Academy of Biology and Biotechnology, Department of Genetics, Human and Animal Genetics Laboratory, 194/1 Stachki Ave, Rostov-on-Don 344090, Russia.
Leuk Res. 2022 Sep;120:106910. doi: 10.1016/j.leukres.2022.106910. Epub 2022 Jun 30.
Mutations in ASXL1 are being investigated for prognostic value in AML, but the relationship between these mutations and prognosis for patients with AML remains unclear. Therefore, we are conducting a meta-analysis to estimate the effect of mutations in ASXL1 to determine their prognostic significance.
Eight studies were selected by searching PubMed, Embase, Web of Science, ClinicalTrials, and the Cochrane Library databases. Hazard ratios (HRs) and their 95% confidence intervals (CIs) for overall survival (OS) and event-free survival (EFS) were pooled to assess the effect of ASXL1 mutations on the prognosis in AML patients.
A total of 8 studies with 4143 patients were included in this meta-analysis. The pooled HRs for OS and EFS revealed that AML patients with ASXL1 mutations had a significantly poor prognosis as compared with those without mutations (OS: HR = 1.59, 95% CI = 1.34-1.88, p < 0.00001; EFS: HR = 1.63, 95% CI = 1.27-2.08, p < 0.0001). Mutations in ASXL1 showed no strong relationship with other AML-specific mutations and FAB subtypes.
This meta-analysis showed that AML patients with ASXL1 mutations had a poor prognosis, which may be a reason to include the diagnostics of this mutation in the prognostic scales for assessing risk in patients with AML.
ASXL1 基因突变的预后价值正在 AML 中进行研究，但这些突变与 AML 患者预后之间的关系尚不清楚。因此，我们进行了一项荟萃分析，以评估 ASXL1 突变对预后的影响，以确定其预后意义。
通过搜索 PubMed、Embase、Web of Science、ClinicalTrials 和 Cochrane Library 数据库，选择了 8 项研究。通过合并总生存率（OS）和无事件生存率（EFS）的风险比（HR）及其 95%置信区间（CI），评估 ASXL1 突变对 AML 患者预后的影响。
这项荟萃分析共纳入 8 项研究，共计 4143 例患者。OS 和 EFS 的合并 HR 表明，与无突变的 AML 患者相比，ASXL1 突变的 AML 患者预后明显较差（OS：HR=1.59，95%CI=1.34-1.88，p<0.00001；EFS：HR=1.63，95%CI=1.27-2.08，p<0.0001）。ASXL1 突变与其他 AML 特异性突变和 FAB 亚型之间没有很强的关系。
这项荟萃分析表明，ASXL1 突变的 AML 患者预后较差，这可能是将该突变的诊断纳入评估 AML 患者风险的预后评分的原因之一。
