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@ARTICLE{Eckardt:300833,
author = {J.-N. Eckardt and W. Hahn and R. E. Ries and S. D. Chrost
and S. Winter and S. Stasik and C. Röllig and U.
Platzbecker and C. Müller-Tidow and H. Serve and C. D.
Baldus and C. Schliemann and K. Schäfer-Eckart and M.
Hanoun and M. Kaufmann and A. Burchert and J. Schetelig and
M. Bornhäuser$^*$ and M. Wolfien and S. Meshinchi and C.
Thiede and J. M. Middeke},
title = {{A}ge-stratified machine learning identifies divergent
prognostic significance of molecular alterations in {AML}.},
journal = {HemaSphere},
volume = {9},
number = {5},
issn = {2572-9241},
address = {Hoboken},
publisher = {John Wiley $\&$ Sons Ltd.},
reportid = {DKFZ-2025-00944},
pages = {e70132},
year = {2025},
abstract = {Risk stratification in acute myeloid leukemia (AML) is
driven by genetics, yet patient age substantially influences
therapeutic decisions. To evaluate how age alters the
prognostic impact of genetic mutations, we pooled data from
3062 pediatric and adult AML patients from multiple cohorts.
Signaling pathway mutations dominated in younger patients,
while mutations in epigenetic regulators, spliceosome genes,
and TP53 alterations became more frequent with increasing
age. Machine learning models were trained to identify
prognostic variables and predict complete remission and
2-year overall survival, achieving area-under-the-curve
scores of 0.801 and 0.791, respectively. Using Shapley
(SHAP) values, we quantified the contribution of each
variable to model decisions and traced their impact across
six age groups: infants, children, adolescents/young adults,
adults, seniors, and elderly. The highest contributions to
model decisions among genetic variables were found for
alterations of NPM1, CEBPA, inv(16), and t(8;21) conferring
favorable risk and alterations of TP53, RUNX1, ASXL1,
del(5q), -7, and -17 conferring adverse risk, while FLT3-ITD
had an ambiguous role conferring favorable treatment
responses yet poor overall survival. Age significantly
modified the prognostic value of genetic alterations, with
no single alteration consistently predicting outcomes across
all age groups. Specific alterations associated with aging
such as TP53, ASXL1, or del(5q) posed a disproportionately
higher risk in younger patients. These results challenge
uniform risk stratification models and highlight the need
for context-sensitive AML treatment strategies.},
cin = {DD01},
ddc = {610},
cid = {I:(DE-He78)DD01-20160331},
pnm = {899 - ohne Topic (POF4-899)},
pid = {G:(DE-HGF)POF4-899},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:40337301},
pmc = {pmc:PMC12056602},
doi = {10.1002/hem3.70132},
url = {https://inrepo02.dkfz.de/record/300833},
}