Lin Yun, Zheng Yi, Wang Ze-Chuan, Wang Shao-Yuan
a Union Clinical Medical College, Fujian Medical University , Fuzhou , P.R. China.
b Department of Hematology, Fujian Provincial Key Laboratory on Hematology , Fujian Medical University Union Hospital , Fuzhou , P.R. China.
Hematology. 2016 Sep;21(8):454-61. doi: 10.1080/10245332.2015.1106815. Epub 2016 Mar 4.
Although additional sex comb-like 1 (ASXL1) gene mutations have long been reported in myelodysplastic syndromes (MDSs) and chronic myelomonocytic leukemia (CMML), the prognostic significance has been controversial. Therefore, a meta-analysis to study the impact of ASXL1 mutations on patients with MDS and CMML is useful.
The identified articles were retrieved from some common databases. We extracted hazard ratios (HRs) for overall survival (OS) and leukemic-free survival (LFS) and P-value of some clinical parameters, which compared AXSL1 mutations to those without from the available studies. Each individual HR and P-value was used to calculate the pooled HR and P-value.
Six studies covering 1689 patients were selected for this meta-analysis. The pooled HRs for OS and LFS were 1.45 (95% confidential interval (CI), 1.24-1.70) and 2.20 (95% CI, 1.53-3.17), respectively. When considering CMML patients alone the HR for OS was 1.50 (95% CI, 1.18-1.90). Additionally, ASXL1 mutations were more frequently found in male (P = 0.008), older (P = 0.019), and patients with lower platelets (P = 0.009) or hemoglobin level (P = 0.0015) and associated with other mutations such as EZH2, IDH1/2, RUNX1, and TET2.
Although our analysis has its limitation, it showed that ASXL1 mutations had significant inferior impact on OS and LFS for French-American-British-defined MDS patients. However, the influence of different types of ASXL1 mutations on patients with MDS still needs illustrating.
ASXL1 mutations were associated with poor prognosis in MDS, which may contribute to risk stratification and prognostic assessment in the disease.
尽管长期以来在骨髓增生异常综合征（MDS）和慢性粒单核细胞白血病（CMML）中均有报道额外性梳状样蛋白1（ASXL1）基因突变，但该突变的预后意义一直存在争议。因此，开展一项荟萃分析以研究ASXL1突变对MDS和CMML患者的影响是很有必要的。
从一些常见数据库中检索已发表的文章。我们提取了总生存期（OS）和无白血病生存期（LFS）的风险比（HR）以及一些临床参数的P值，这些参数是在现有研究中将ASXL1突变患者与未发生突变的患者进行比较得出的。每个单独的HR和P值用于计算合并后的HR和P值。
本荟萃分析共纳入6项研究，涉及1689例患者。OS和LFS的合并HR分别为1.45（95%置信区间（CI），1.24 - 1.70）和2.20（95% CI，1.53 - 3.17）。单独考虑CMML患者时，OS的HR为1.50（95% CI，1.18 - 1.90）。此外，ASXL1突变在男性（P = 0.008）、年龄较大者（P = 0.019）以及血小板水平较低（P = 0.009）或血红蛋白水平较低（P = 0.0015）的患者中更常见，并且与其他突变如EZH2、IDH1/2、RUNX1和TET2相关。
尽管我们的分析存在局限性，但结果显示ASXL1突变对法美英分型的MDS患者的OS和LFS有显著的不良影响。然而，不同类型的ASXL1突变对MDS患者的影响仍有待阐明。
ASXL1突变与MDS的不良预后相关，这可能有助于该疾病的风险分层和预后评估。
