Comparison of mutational profiles and clinical outcomes in patients with acute myeloid leukemia with mutated RUNX1 versus acute myeloid leukemia with myelodysplasia-related changes with mutated RUNX1

Leuk Lymphoma. 2020 Jun;61(6):1395-1405. doi: 10.1080/10428194.2020.1723016. Epub 2020 Feb 24.


Studies comparing the prognostic role of RUNX1 mutations (RUNX1mut) in acute myeloid leukemia (AML) and acute myeloid leukemia-with myelodysplasia-related changes (AML-MRC) are limited. Our study examines the genetic profile of 118 RUNX1mut AML patients including 57 AML with RUNX1mut and 61 AML-MRC with RUNX1mut and 100 AML, NOS patients with wild type RUNX1 (RUNX1wt). Results revealed that AML-MRC patients with RUNX1mut had shorter median overall survival (OS) (11 ± 3.3 months) when compared to AML with RUNX1mut (19 ± 7.1 months) and AML, NOS with RUNX1wt (not reached) (p = .001). The most common concurrent mutations observed in AML-MRC with RUNX1mut patients were DNMT3A, SRSF2, ASXL1, and IDH2 while in AML with RUNX1mut patients were ASXL1, SRSF2, TET2, IDH2, and DNMT3A. ASXL1 and TET2 mutations appeared to adversely affect OS in AML-MRC, but not in AML with RUNX1mut. Concurrent RUNX1/DNMT3A mutations, in contrast had negative impact on OS in AML with RUNX1mut, but not in AML-MRC with RUNX1mut.

Keywords: AML; AML-MRC; NGS; RUNX1.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Core Binding Factor Alpha 2 Subunit / genetics
  • Humans
  • Leukemia, Myeloid, Acute* / diagnosis
  • Leukemia, Myeloid, Acute* / genetics
  • Mutation
  • Myelodysplastic Syndromes* / genetics
  • Prognosis


  • Core Binding Factor Alpha 2 Subunit
  • RUNX1 protein, human