TY - JOUR
T1 - Acute myeloid leukemia with concurrent NPM1 and RUNX1 mutations
AU - Zuo, Zhuang
AU - Medeiros, L. Jeffrey
AU - Yin, C. Cameron
N1 - Publisher Copyright:
© 2023 The Author(s)
PY - 2023/1
Y1 - 2023/1
N2 - NPM1 mutation, as a founding genetic event, cooperates with other gene mutations, such as DNMT3A and FLT3, to promote the development of acute myeloid leukemia. NPM1 mutation, however, has been reported to be mutually exclusive with RUNX1 mutation in acute myeloid leukemia cases. In this study, we analyzed mutation panel testing data from a relatively large cohort of rare AML cases with both NPM1 and RUNX1 mutations. We describe the dynamic process of the emergence of these mutations, as well as molecular genetic features and clinical outcome of these patients. We show that concurrence of both mutations in acute myeloid leukemia is associated with adverse prognostic factors, such as concurrent karyotypic abnormalities and FLT3 internal tandem duplication mutation, and poorer overall survival.
AB - NPM1 mutation, as a founding genetic event, cooperates with other gene mutations, such as DNMT3A and FLT3, to promote the development of acute myeloid leukemia. NPM1 mutation, however, has been reported to be mutually exclusive with RUNX1 mutation in acute myeloid leukemia cases. In this study, we analyzed mutation panel testing data from a relatively large cohort of rare AML cases with both NPM1 and RUNX1 mutations. We describe the dynamic process of the emergence of these mutations, as well as molecular genetic features and clinical outcome of these patients. We show that concurrence of both mutations in acute myeloid leukemia is associated with adverse prognostic factors, such as concurrent karyotypic abnormalities and FLT3 internal tandem duplication mutation, and poorer overall survival.
KW - Acute myeloid leukemia (AML)
KW - NPM1 mutation
KW - RUNX1 mutation
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U2 - 10.1016/j.lrr.2023.100385
DO - 10.1016/j.lrr.2023.100385
M3 - Article
C2 - 37680325
AN - SCOPUS:85169006105
SN - 2213-0489
VL - 20
JO - Leukemia Research Reports
JF - Leukemia Research Reports
M1 - 100385
ER -