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Related Experiment Video

Updated: May 17, 2026

Investigation of the Transcriptional Role of a RUNX1 Intronic Silencer by CRISPR/Cas9 Ribonucleoprotein in Acute Myeloid Leukemia Cells
09:16

Investigation of the Transcriptional Role of a RUNX1 Intronic Silencer by CRISPR/Cas9 Ribonucleoprotein in Acute Myeloid Leukemia Cells

Published on: September 1, 2019

Immunophenotypic, Genetic, and Clinical Features Associated With RUNX1 Mutation in Acute Leukemias and Chronic

Yi Han Xia1, Eric McGinnis1,2,3

  • 1Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.

International Journal of Laboratory Hematology
|May 15, 2026
PubMed
Summary

Mutated RUNX1 (mRUNX1) in acute myeloid leukemia and myelodysplastic syndrome is linked to B-lineage marker aberrancy. These RUNX1 mutations, often missense and in the RHD, correlate with specific antigen expressions and co-mutations.

Keywords:
B‐lymphocyteacuteantigensdifferentiationflow cytometryleukemiamyelodysplastic syndromesmyeloidrunt‐related transcription factor 1

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Investigation of the Transcriptional Role of a RUNX1 Intronic Silencer by CRISPR/Cas9 Ribonucleoprotein in Acute Myeloid Leukemia Cells
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Published on: September 1, 2019

Identifying Bone Marrow Microenvironmental Populations in Myelodysplastic Syndrome and Acute Myeloid Leukemia
06:33

Identifying Bone Marrow Microenvironmental Populations in Myelodysplastic Syndrome and Acute Myeloid Leukemia

Published on: November 10, 2023

Area of Science:

  • Hematology
  • Molecular Biology
  • Cancer Genomics

Background:

  • RUNX1 mutations are common in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS).
  • Mutated RUNX1 (mRUNX1) can cause cross-lineage immunophenotypic aberrancy, complicating blast lineage assignment.
  • Understanding mRUNX1's impact on immunophenotype is crucial for accurate diagnosis and risk stratification.

Purpose of the Study:

  • To investigate the characteristics of RUNX1 mutations in a patient cohort.
  • To assess the association of mRUNX1 with specific flow cytometric features, including B-lineage marker expression.
  • To identify common co-mutations and their relationship with mRUNX1.

Main Methods:

  • Retrospective review of clinical and laboratory data for 125 patients with RUNX1 mutations (2016-2022).
  • Reanalysis of diagnostic flow cytometry data.
  • Assessment of RUNX1 mutation characteristics, co-mutations, and flow cytometric findings.

Main Results:

  • Missense RUNX1 mutations were frequent (42.9%) and enriched in the Runt Homology Domain (RHD).
  • Common co-mutations included ASXL1, SRSF2, and TET2.
  • The mRUNX1 group showed frequent B-lymphoid marker positivity (14.4%), with CD10 and CD79a expression linked to specific RUNX1 mutation types and locations.

Conclusions:

  • Missense RUNX1 variants cluster in the RHD, with recurrent pathogenic variants observed.
  • Higher-risk co-mutations are prevalent in mRUNX1 cases, potentially contributing to adverse outcomes.
  • Aberrancy in B-lineage markers in mRUNX1 patients was comparable to control groups.