Molecules and Cells

Korean Society for Molecular and Cellular Biology (한국분자세포생물학회)
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RUNX1 Mutations in the Leukemic Progression of Severe Congenital Neutropenia

  • Olofsen, Patricia A. (Department of Hematology, Erasmus MC) ;
  • Touw, Ivo P. (Department of Hematology, Erasmus MC)
  • Received : 2020.01.07
  • Accepted : 2020.01.08
  • Published : 2020.02.29
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Abstract

Somatic RUNX1 mutations are found in approximately 10% of patients with de novo acute myeloid leukemia (AML), but are more common in secondary forms of myelodysplastic syndrome (MDS) or AML. Particularly, this applies to MDS/AML developing from certain types of leukemia-prone inherited bone marrow failure syndromes. How these RUNX1 mutations contribute to the pathobiology of secondary MDS/AML is still unknown. This mini-review focusses on the role of RUNX1 mutations as the most common secondary leukemogenic hit in MDS/AML evolving from severe congenital neutropenia (SCN).

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References

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