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RUNX1 Mutations in the Leukemic Progression of Severe Congenital Neutropenia

Molecules and Cells 2020년 43권 2호 p.139 ~ 144
 ( Olofsen Patricia A. ) - Erasmus MC Department of Hematology

 ( Touw Ivo P. ) - Erasmus MC Department of Hematology

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).

키워드

leukemic progression; RUNX1; severe congenital neutropenia
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