RNA sequencing as an alternative tool for detecting measurable residual disease in core-binding factor acute myeloid leukemia

Sci Rep. 2020 Nov 18;10(1):20119. doi: 10.1038/s41598-020-76933-2.

Abstract

DNA sequencing-based measurable residual disease (MRD) detection has shown to be clinically relevant in AML. However, the same methodology cannot be applied to fusion gene-driven subtypes of AML such as core-binding factor AML (CBF-AML). Here in this study, we evaluated the effectiveness of using DNA and RNA sequencing in MRD detection and in tracking clonal dynamics in CBF-AML. Using RNA-seq, we were able to quantify expression levels of RUNX1-RUNX1T1 and CBFB-MYH11 at diagnosis and their levels of reduction during remission (P < 6.3e-05 and P < 2.2e-13). The level of reduction of RUNX1-RUNX1T1 as measured by RNA-seq and qPCR were highly correlated (R2 = 0.74, P < 5.4e-05). A decision tree analysis, based on 3-log reduction of RUNX1-RUNX1T1 and cKIT-D816mut at diagnosis, stratified RUNX1-RUNX1T1 AML patients into three subgroups. These three subgroups had 2-year overall survival rates at 87%, 74%, and 33% (P < 0.08) and 2-year relapse incidence rates at 13%, 42%, and 67% (P < 0.05). On the other hand, although low residual allelic burden was common, it was not associated with long-term outcome, indicating that mutation clearance alone cannot be interpreted as MRD-negative. Overall, our study demonstrates that the clinical utility of RNA sequencing as a potential tool for MRD monitoring in fusion gene-driven AML such as RUNX1-RUNX1T1 AML.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Core Binding Factor Alpha 2 Subunit / genetics
  • Core Binding Factors / genetics*
  • Female
  • Gene Expression Regulation, Leukemic
  • Gene Rearrangement
  • Humans
  • Leukemia, Myeloid, Acute / genetics*
  • Leukemia, Myeloid, Acute / mortality
  • Leukemia, Myeloid, Acute / pathology*
  • Male
  • Middle Aged
  • Mutation*
  • Myosin Heavy Chains / genetics
  • Neoplasm, Residual / genetics
  • Oncogene Proteins, Fusion / genetics
  • Prognosis
  • Proof of Concept Study
  • RUNX1 Translocation Partner 1 Protein / genetics
  • Sequence Analysis, RNA / methods*
  • Young Adult

Substances

  • AML1-ETO fusion protein, human
  • Core Binding Factor Alpha 2 Subunit
  • Core Binding Factors
  • MYH11 protein, human
  • Oncogene Proteins, Fusion
  • RUNX1 Translocation Partner 1 Protein
  • RUNX1T1 protein, human
  • Myosin Heavy Chains