RUNX1 Mutations in the Leukemic Progression of Severe Congenital Neutropenia
Patricia A. Olofsen and Ivo P. Touw
Department of Hematology, Erasmus MC, Rotterdam 3015 CN, The Netherlands
Received January 7, 2020; Accepted January 8, 2020.; Published online February 3, 2020.
© Korean Society for Molecular and Cellular Biology. All rights reserved.

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).
Keywords: leukemic progression, RUNX1, severe congenital neutropenia

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31 January 2020 Volume 43,
Number 1, pp. 1~95

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