Mutations in the splicing factor SF3B1 — the most commonly mutated gene in patients with MDS — are associated with better outcomes and longer survival, making this gene the focus of much preclinical research.
Many recent studies have explored the impact of gene mutations in patients with MDS, and clinical-grade genomic evaluation may be used to guide treatment decisions for all patient subgroups.
Mutations in RUNX1, TP53, and EZH2 have consistently been linked with unfavorable prognosis. In particular, mutations in TP53 have been associated with resistance to conventional chemotherapy. These mutations are also associated with high rate of relapse post-transplantation.
Learn more about risk stratification in patients with MDS.
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Cite this: Emmanuel C. Besa. Fast Five Quiz: Myelodysplastic Syndrome Presentation and Diagnosis - Medscape - May 12, 2021.