Global prevalence of Wilms' tumor 1 gene expression and mutations in acute leukemia and myelodysplastic syndromes: a systematic review and meta-analysis

The Wilms Tumor 1 gene (WT1) is commonly overexpressed in leukemia, with a magnitude ranging from 28% to 94.5%. Mutation in WT1 is found in 19% to 68.6% of patients with acute leukemia and myelodysplastic syndrome (MDS). Despite numerous individual studies, the evidence regarding the pooled prevalence of WT1 expression and mutation remains limited. This study aimed to determine the pooled prevalence of WT1 gene expression and mutations in patients with acute leukemia and MDS, and to evaluate variations across subtypes. To conduct this systematic review and meta-analysis, we followed the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA). The review protocol was registered on PROSPERO (CRD 420251274348), and relevant information was retrieved through comprehensive and reproducible electronic searching of databases, such as MEDLINE, HINARI, Embase, Scopus, CINAHL, the scientific information database, and African online archives. All studies on leukemia and myelodysplastic syndrome from 1997 to January 1, 2026, with data on the prevalence of gene expression and mutation were included, and then inclusion criteria were applied to all relevant articles. Using STATA software (Ver. 11.1), data were analyzed with a random effect model. I2 test statistics were employed to assess the degree of heterogeneity. The Egger regression test and funnel plot analysis were employed to identify publication bias. The study included 14,383 participants from 66 articles. The pooled global prevalence of WT1 expression among patients with acute leukemia and MDS was 69.74% (95% CI 63.42–76.07) with the I2 statistic (I2 = 93.7%, P < 0.001). In subgroup analyses among AML, MDS, and ALL, respectively, the prevalence was 66.31% (95% CI 51.43–81.19), 66.70% (95% CI 52.50–80.90), and 73.95% (95% CI 66.68–81.22). The prevalence of WT1 mutation among patients with acute leukemia was 15.35% (95% CI 13.06–17.6), and subgroup analysis by type of leukemia among AML and ALL, respectively, was 18.9% (95% CI 9.4–28.4) and 15.35% (95% CI 12.30–16.70). WT1 overexpression is commonly reported among patients with acute leukemia and MDS, affecting more approximately two-thirds of patients, while WT1 mutation in acute leukemia demonstrates a considerable prevalence. Therefore, assessment of WT1 expression and mutation should be considered in clinical practice to support diagnosis and prognostic evaluation in patients with acute leukemia and MDS.