Prognostic impact of SF3B1 mutation and multilineage dysplasia in myelodysplastic syndromes with ring sideroblasts: a Mayo Clinic study of 170 informative cases

Haematologica. 2024 Aug 1;109(8):2525-2532. doi: 10.3324/haematol.2023.284719.

Abstract

The revised 4th edition of the World Health Organization (WHO4R) classification lists myelodysplastic syndromes with ring sideroblasts (MDS-RS) as a separate entity with single lineage (MDS-RS-SLD) or multilineage (MDS-RS-MLD) dysplasia. The more recent International Consensus Classification (ICC) distinguishes between MDS with SF3B1 mutation (MDS-SF3B1) and MDS-RS without SF3B1 mutation; the latter is instead included under the category of MDS not otherwise specified. The current study includes 170 Mayo Clinic patients with WHO4R-defined MDS-RS, including MDS-RS-SLD (N=83) and MDS-RSMLD (N=87); a subset of 145 patients were also evaluable for the presence of SF3B1 and other mutations, including 126 with (87%) and 19 (13%) without SF3B1 mutation. Median overall survival for all 170 patients was 6.6 years with 5- and 10-year survival rates of 59% and 25%, respectively. A significant difference in overall survival was apparent between MDS-RS-MLD and MDS-RS-SLD (P<0.01) but not between MDS-RS with and without SF3B1 mutation (P=0.36). Multivariable analysis confirmed the independent prognostic contribution of MLD (hazard ratio=1.8, 95% confidence interval: 1.1-2.8; P=0.01) and also identified age (P<0.01), transfusion need at diagnosis (P<0.01), and abnormal karyotype (P<0.01), as additional risk factors; the impact from SF3B1 or other mutations was not significant. Leukemia-free survival was independently affected by abnormal karyotype (P<0.01), RUNX1 (P=0.02) and IDH1 (P=0.01) mutations, but not by MLD or SF3B1 mutation. Exclusion of patients not meeting ICC-criteria for MDS-SF3B1 did not change the observations on overall survival. MLD-based, as opposed to SF3B1 mutation-based, disease classification for MDS-RS might be prognostically more relevant.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Anemia, Sideroblastic* / diagnosis
  • Anemia, Sideroblastic* / genetics
  • Anemia, Sideroblastic* / mortality
  • Anemia, Sideroblastic* / pathology
  • Cell Lineage
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Myelodysplastic Syndromes* / diagnosis
  • Myelodysplastic Syndromes* / genetics
  • Myelodysplastic Syndromes* / mortality
  • Myelodysplastic Syndromes* / pathology
  • Phosphoproteins* / genetics
  • Prognosis
  • RNA Splicing Factors* / genetics
  • Ribonucleoprotein, U2 Small Nuclear / genetics
  • Young Adult

Substances

  • SF3B1 protein, human
  • RNA Splicing Factors
  • Phosphoproteins
  • Ribonucleoprotein, U2 Small Nuclear