Clinical, Genetic, and Pathologic Variability in Myelodysplastic Syndromes and Precursor Conditions Across Race, Ethnicity, and Sex - PubMed
4 hours ago
- #Demographic Disparities
- #Myelodysplastic Syndromes
- #Genetic Variability
- Myelodysplastic syndromes (MDS) and precursor conditions show clinical, genetic, and pathologic variability across race, ethnicity, and sex, based on the National MDS Natural History Study.
- Black participants were younger at diagnosis (69 vs. 74 years), had higher-risk MDS features but received less therapy, and had fewer detectable gene mutations compared to White participants.
- Hispanic participants also had fewer detectable gene mutations than White participants, while females had lower variant allele frequencies and fewer RNA splicing gene mutations than males.
- Key genetic variants identified include TET2, DNMT3A, ASXL1, SF3B1, and SRSF2, with TP53 mutations, MDS diagnosis, and higher-risk disease linked to worse survival outcomes.
- The study underscores the need for better understanding of MDS pathogenesis across demographics and refined prognostic tools for personalized management.