Mutations and karyotype in myelodysplastic syndromes: TP53 clusters with monosomal karyotype, RUNX1 with trisomy 21, and SF3B1 with inv(3)(q21q26.2) and del(11q)

Abstract excerpt

Next-generation sequencing (NGS) studies have now established the presence of sometimes multiple somatic mutations in the majority of patients with myelodysplastic syndromes (MDS) 1 , 2 . Some of these mutations, including ASXL1 , TP53 , RUNX1 , EZH2 , and SRSF2 , have been shown to adversely affect overall or leukemia-free survival, independent of each other and conventional risk models 2 . More recent studies...

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