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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Keywords leukemic progression, RUNX1, severe congenital neutropenia
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Journal Molecules and cells
Olofsen, P.A. (Patricia A.), & Touw, I.P. (2020). RUNX1 Mutations in the Leukemic Progression of Severe Congenital Neutropenia. Molecules and cells (Vol. 43, pp. 139–144). doi:10.14348/molcells.2020.0010