TY - JOUR
T1 - RUNX1 Mutations in the Leukemic Progression of Severe Congenital Neutropenia
AU - Olofsen, Patricia A.
AU - Touw, Ivo P.
N1 - Publisher Copyright:
© 2020 THE AUTHORS. Published by Elsevier Inc on behalf of the Korean Society for Molecular and Cellular Biology
PY - 2020/2
Y1 - 2020/2
N2 - 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).
AB - 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).
KW - leukemic progression
KW - RUNX1
KW - severe congenital neutropenia
UR - http://www.scopus.com/inward/record.url?scp=85081154397&partnerID=8YFLogxK
U2 - 10.14348/molcells.2020.0010
DO - 10.14348/molcells.2020.0010
M3 - Review article
C2 - 32041395
AN - SCOPUS:85081154397
SN - 1016-8478
VL - 43
SP - 139
EP - 144
JO - Molecules and Cells
JF - Molecules and Cells
IS - 2
ER -