Prognostic effect of RUNX1 mutations in myelodysplastic syndromes: a meta-analysis

Hematology. 2020 Dec;25(1):494-501. doi: 10.1080/16078454.2020.1858598.

Abstract

Objectives: RUNX1 mutations have been widely found in patients with myelodysplastic syndrome (MDS). Majority of reports revealed that RUNX1 mutations are associated with a poor prognosis. However, discrepancies still remain. The results of univariate analysis were not confirmed in multivariate analysis in some cases. Therefore, we performed a meta-analysis to assess the prognostic effect of RUNX1 mutations in MDS.

Methods: We extracted data from qualified studies that were searched from PubMed, Embase and the Cochrane Library. Hazard ratios (HRs) and their 95% confidence intervals (CIs) for the overall survival (OS) and leukemia free survival (LFS) were pooled from the multivariate Cox proportional hazard models.

Results: Sixteen studies containing 5422 patients were included in this meta-analysis. There were 617 patients with mutated RUNX1 and 4805 patients with wide type RUNX1. The total HR for OS was 1.43 (95% CI = 1.21-1.70, P < 0.0001) and the counterpart of LFS was 1.88 (95% CI = 1.42-2.51, P < 0.0001).

Discussion and conclusion: These results suggest that the RUNX1 mutations are associated with unfavorable outcomes and shorter survival in patients with MDS. Furthermore, poor prognosis of patients might be alleviated by stem cell transplantation. Patients bearing these mutations should be prioritized for aggressive therapy.

Keywords: RUNX1 mutations; meta-analysis; myelodysplastic syndromes; prognosis.

Publication types

  • Meta-Analysis

MeSH terms

  • Alleles
  • Combined Modality Therapy
  • Core Binding Factor Alpha 2 Subunit / genetics*
  • Disease Management
  • Genetic Association Studies
  • Genetic Predisposition to Disease*
  • Humans
  • Mutation*
  • Myelodysplastic Syndromes / diagnosis
  • Myelodysplastic Syndromes / genetics*
  • Myelodysplastic Syndromes / mortality*
  • Myelodysplastic Syndromes / therapy
  • Prognosis
  • Proportional Hazards Models

Substances

  • Core Binding Factor Alpha 2 Subunit
  • RUNX1 protein, human