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@ARTICLE{Bill:305540,
author = {M. Bill$^*$ and J.-N. Eckardt and K. Döhner and M.-A.
Röhnert and C. Rausch and K. H. Metzeler and K. Spiekermann
and S. Stasik and A. A. Wurm$^*$ and T. Sauer$^*$ and S.
Scholl and U. Schnetzke and A. Hochhaus and M. Crysandt and
T. H. Brümmendorf and U. Krug and B. Wörmann and H.
Einsele and W. Hiddemann and D. Görlich and C. Sauerland
and B. Steffen and A. Neubauer and A. Burchert and K.
Schäfer-Eckart and W. E. Berdel and C. Schliemann and S. W.
Krause and M. Hänel and M. Hanoun and M. Kaufmann and L.
Fransecky and J. Braess and J. Schetelig and J. M. Middeke
and L. Bullinger and M. Heuser and F. Thol and H. Serve and
C. D. Baldus and U. Platzbecker and C. Müller-Tidow and J.
Válka and J. Šrámek and B. Weinbergerova and J. Mayer and
P.-Y. Dumas and S. Bertoli and E. Delabesse and C. Récher
and A. Pigneux and T. Herold and A. Ganser and H. Döhner
and M. Bornhäuser$^*$ and C. Thiede and C. Röllig},
title = {{D}ifferential prognostic impact of myelodysplasia-related
gene mutations in a {E}uropean cohort of 4978 intensively
treated {AML} patients.},
journal = {Leukemia},
volume = {nn},
issn = {0887-6924},
address = {London},
publisher = {Springer Nature},
reportid = {DKFZ-2025-02214},
pages = {nn},
year = {2025},
note = {epub},
abstract = {In the European LeukemiaNet (ELN) 2022 recommendations,
myelodysplasia-related (MR) gene mutations were classified
as a novel adverse prognostic category for intensively
treated acute myeloid leukemia (AML). To assess the
prognostic impact of individual MR genes within the ELN,
clinical, cytogenetic, and molecular data from 4,978
intensively treated AML patients were analyzed. Remission
rates and survival outcomes were evaluated. For analyses in
context of ELN2022 classification, patients carrying an MR
mutation were excluded from the adverse group and analyzed
separately; those with co-occurring favorable or
intermediate features remained in their respective groups.
Overall, 1698 patients $(34.1\%)$ harbored at least one MR
mutation. Lower complete remission rates were observed in
MR-mutated cases $(65.7\%$ vs $77.7\%;$ p < 0.001) along
with shorter event-free (HR 1.45; p < 0.001), relapse-free
(HR 1.33; p < 0.001), and overall survival (HR 1.45; p <
0.001) were recorded. Gene-specific prognostic patterns
emerged: ASXL1, RUNX1, SF3B1, and U2AF1 mutations associated
with adverse risk-like outcomes; SRSF2 and STAG2 aligned
with intermediate-risk; BCOR, EZH2, and ZRSR2 did not differ
significantly from intermediate or adverse risk. These
findings from a large cooperative cohort highlight
prognostic heterogeneity among MR mutations and suggest that
SRSF2 and STAG2 mutations are associated with less adverse
risk patterns, comparable to intermediate-risk.},
cin = {DD01 / A360},
ddc = {610},
cid = {I:(DE-He78)DD01-20160331 / I:(DE-He78)A360-20160331},
pnm = {311 - Zellbiologie und Tumorbiologie (POF4-311)},
pid = {G:(DE-HGF)POF4-311},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:41145671},
doi = {10.1038/s41375-025-02781-6},
url = {https://inrepo02.dkfz.de/record/305540},
}