Sex Disparities in Myelodysplastic Syndromes: Genotype, Phenotype, and Outcomes

Clin Lymphoma Myeloma Leuk. 2023 May;23(5):355-359. doi: 10.1016/j.clml.2023.01.007. Epub 2023 Jan 16.

Abstract

Introduction/Background The impact of biological sex on the clinical phenotype, genotype, and outcomes among patients with MDS is not well characterized. Materials and Methods We retrospectively reviewed the clinical and genomic data from male and female patients included in our institutional MDS database at Moffitt Cancer Center. Results Among 4580 patients with MDS, 2922 (66%) were men and 1658 (34%) were women. Women were younger (mean age 66.5 vs. 69 years for men, P < .001) at diagnosis. There were more Hispanic/black women than men (9% vs. 5%, P =<.001). Women had lower hemoglobin and higher platelet counts than men. More women had del 5q/monosomy 5 abnormalities compared to men (P =<.001). Therapy related MDS were more common in women than men (25% vs.17%, P=<.001). On assessment of molecular profile, SRSF2, U2AF1, ASXL1, and RUNX1 mutations were more frequent in men. The median overall survival (mOS) was 37.5 months (mo) for females compared to 35 monthsfor males, (P = .002). The mOS was significantly prolonged for women in lower-risk MDS, but not in higher-risk MDS. Women were more likely to respond to immunosuppression with ATG/CSA than men (38% vs. 19%, P= 0.04).Conclusion Ongoing research is needed for understanding the impact of sex on phenotype, genotype, and outcomes in patients diagnosed with MDS.

Keywords: sex differences, genomic data, splicing machinery mutations; somatic mutations.

MeSH terms

  • Female
  • Genotype
  • Humans
  • Male
  • Mutation
  • Myelodysplastic Syndromes* / diagnosis
  • Myelodysplastic Syndromes* / drug therapy
  • Myelodysplastic Syndromes* / genetics
  • Phenotype
  • Prognosis
  • Retrospective Studies
  • Splicing Factor U2AF / genetics

Substances

  • Splicing Factor U2AF