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Updated: Aug 5, 2025

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

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

Published on: September 1, 2019

RUNX1 together with DAT mutations predicted poor outcome in acute myeloid leukemia.

Jinyan Xiao^1,2, Jundan Xie^1,2, Biqi Zhou^1,2

¹Jiangsu Institute of Haematology, National Clinical Research Center for Haematologic Diseases, The First Affiliated Hospital of Soochow University, Suzhou, China.

Leukemia & Lymphoma

|March 25, 2023

Summary

Discover the prognostic impact of DAT mutations in RUNX1-mutated acute myeloid leukemia (AML). DAT mutations independently predict worse relapse-free survival, but allogeneic stem cell transplant may improve outcomes.

Keywords:

Acute myeloid leukemia DAT mutations RUNX1 mutation allo-HSCT

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Published on: January 7, 2019

Area of Science:

Hematology
Oncology
Molecular Biology

Background:

RUNX1 mutations are common in acute myeloid leukemia (AML).
The prognostic significance of co-occurring DAT mutations in RUNX1-mutated AML requires further investigation.

Purpose of the Study:

To retrospectively analyze the prognostic impact of DAT mutations at diagnosis in 122 RUNX1-mutated AML patients.
To evaluate the effect of DAT mutations and RUNX1 variant allele frequency (VAF) on overall survival (OS) and relapse-free survival (RFS).

Main Methods:

Retrospective analysis of 122 RUNX1-mutated AML patients.
Propensity score matching to compare outcomes between DAT-positive (DATpos) and DAT-negative (DATneg) groups.
Multivariate analysis to identify independent prognostic factors.

Main Results:

DAT mutations were present in 38.5% of RUNX1-mutated AML patients.
DATpos patients exhibited significantly worse two-year RFS compared to DATneg patients (p=0.041).
High RUNX1 VAF (≥37.6%) correlated with poorer two-year OS and RFS (p=0.033 and p=0.027, respectively), particularly in the RUNX1highDATpos subgroup.
Multivariate analysis identified DAT mutations as an independent adverse factor for RFS.
No significant differences in OS or RFS were observed between DATpos and DATneg or RUNX1high and RUNX1low patients undergoing allogeneic hematopoietic stem cell transplantation (allo-HSCT).

Conclusions:

DAT mutations at diagnosis are adverse prognostic factors for RFS in RUNX1-mutated AML.
Allogeneic hematopoietic stem cell transplantation may overcome the negative prognostic impact of DAT mutations, improving outcomes for these patients.