Mutation status and burden can improve prognostic prediction of patients with lower‐risk myelodysplastic syndromes

摘要

Patients with lower‐risk myelodysplastic syndromes (LR‐MDS) as defined by the International Prognostic Scoring System (IPSS) have more favorable prognosis in general, but significant inter‐individual heterogeneity exists. In this study, we examined the molecular profile of 15 MDS‐relevant genes in 159 patients with LR‐MDS using next‐generation sequencing. In univariate COX regression, shorter overall survival (OS) was associated with mutation status of (  = .001), (  = .031), (  = .049), (  = .016), (  = .046), (  = .040), and (  = .035). We also found significantly shorter OS in patients with an adjusted variant allele frequency (VAF) ≥18% versus those with either an adjusted VAF <18% or without mutations (median: 20.4 vs 47.8 months;  = .020; HR = 2.183, 95%CI: 1.129‐4.224). After adjustment for IPSS, shorter OS was associated with mutation status of (  TP53 (  = .004; HR = 4.863, 95% CI: 1.662‐14.230) and (  = .002; HR = 5.466, 95%CI: 1.848‐16.169), as well as adjusted VAF ≥18% (  = .008; HR = 2.492, 95% CI: 1.273‐4.876). Also, OS was increasingly shorter as the number of mutational factors increased (  P