Predictive and prognostic value of gene mutations in myelodysplastic syndrome treated with hypomethylating agents: a meta-analysis.

Although the effect of gene mutations on overall response rate (ORR) and overall survival (OS) in myelodysplastic syndrome (MDS) treated with hypomethylating agents (HMAs) has been explored, the effect is still controversial. We performed this meta-analysis to investigate the effect. The pooled odds ratio (OR) and 95% confidence interval (CI) for ORR and the pooled hazard ratio (HR) and 95%CI for OS were chosen to estimate the effect. The pooled OR of TET2 was 0.73 (95%CI: 0.59-0.91,  = 0.005) and the pooled OR of ASXL1 was 1.38 (95%CI: 1.12-1.71,  = 0.003). As for prognosis, the pooled HR of RUNX1 was 1.45 (95%CI: 1.15-1.85,  = 0.002). The pooled HR of TP53 was 2.30 (95%CI: 1.83-2.90,  < 0.001) and the pooled HR of U2AF1 was 1.41 (95%CI: 1.15-1.74,  = 0.001). There was no statistical difference shown in other genes. Therefore, TET2 mutation and ASXL1 wild-type were the predictor of better response to HMAs. Mutations of TP53, RUNX1, and U2AF1 were associated with poor prognosis in MDS.