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Updated: Nov 1, 2025

Investigation of the Transcriptional Role of a RUNX1 Intronic Silencer by CRISPR/Cas9 Ribonucleoprotein in Acute Myeloid Leukemia Cells
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ASXL1 Gene in AML.

Rodrigo Hurtado1, Fabian Guirales1, Carlos A Tirado1,2

  • 1The International Circle of Genetic Studies, Los Angeles, CA.

Journal of the Association of Genetic Technologists
|June 18, 2021
PubMed
Summary

Mutations in the ASXL1 gene are linked to aggressive myeloid malignancies and poor outcomes. Understanding ASXL1 mutations is crucial for the prognostic evaluation of acute myeloid leukemia (AML).

Area of Science:

  • Genetics
  • Molecular Biology
  • Hematology

Background:

  • The ASXL1 gene, located on 20q11, encodes a protein involved in gene expression and epigenetic regulation.
  • ASXL1 is homologous to Drosophila Asx and is expressed in most hematopoietic cells.
  • ASXL1 is proposed to function as a tumor suppressor gene.

Purpose of the Study:

  • To examine the role of the ASXL1 gene in acute myeloid leukemia (AML).
  • To evaluate the significance of ASXL1 mutations in the prognostic assessment of AML patients.

Main Methods:

  • Literature review and analysis of existing data on ASXL1 mutations in myeloid malignancies.
  • Focus on the presence and impact of ASXL1 mutations in various subtypes of AML.

Main Results:

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  • ASXL1 mutations are frequently observed in myeloid malignancies, often correlating with aggressive disease and poor prognosis.
  • These mutations were first identified in myelodysplastic syndromes (MDS) in 2009.
  • ASXL1 mutations are also found in AML with normal karyotype, myelodysplasia-related changes, and non-characteristic cytogenetic findings.

Conclusions:

  • ASXL1 mutations are important biomarkers in myeloid malignancies.
  • Further investigation into ASXL1 mutations can refine prognostic evaluations for AML.