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KMID : 0578320200430020139
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Molecules and Cells
2020 Volume.43 No. 2 p.139 ~ p.144
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RUNX1 Mutations in the Leukemic Progression of Severe Congenital Neutropenia
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Olofsen Patricia A.
Touw Ivo P.
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Abstract
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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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KEYWORD
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leukemic progression, RUNX1, severe congenital neutropenia
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