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@ARTICLE{Mecklenbrauck:309803,
author = {R. Mecklenbrauck and A. Villaverde Ramiro and E. Sträng
and R. Gabdoulline and J. Martinez Elicegui and M. Sobas and
L. Pleyer and A. Turki and M. T. Voso and A. Benner$^*$ and
A. Hernández-Sánchez and J. M. Tettero and L. Tur Gimenez
and K. H. Metzeler and G. Oñate and S. Lehmann and B. J.
Huntly and I. Thomas and F. R. Thol and F. H. Heidel and P.
J. Valk and K. Döhner and T. Haferlach and K. I. Mills and
H. Döhner and G. Castellani and G. J. Ossenkoppele and J.
M. Hernández-Rivas and L. Bullinger and M. Heuser},
title = {{P}rognostic impact of myelodysplasia-related gene
mutations in {FLT}3-{ITD}-mutated acute myeloid leukemia.},
journal = {Leukemia},
volume = {nn},
issn = {0887-6924},
address = {London},
publisher = {Springer Nature},
reportid = {DKFZ-2026-00316},
pages = {nn},
year = {2026},
note = {epub},
abstract = {The inclusion of nine myelodysplasia-related gene (MRG)
mutations (ASXL1, BCOR, EZH2, RUNX1, SF3B1, SRSF2, STAG2,
U2AF1, ZRSR2) as adverse risk factors in the ELN risk
classification has reshaped classification in acute myeloid
leukemia (AML). AML with FLT3-ITD mutations and co-occurring
MRG alterations is now classified to the ELN adverse risk
group although supporting evidence remains limited. Among
4,078 patients with AML with available molecular information
included in the HARMONY platform, 862 harbored FLT3-ITD
mutations and underwent intensive chemotherapy. Of these,
171 $(20\%)$ exhibited co-occurring MRG mutations at
diagnosis. In this cohort, MRGs were not independently
associated with relapse-free survival (RFS) or overall
survival (OS). In the FLT3-ITD/NPM1 co-mutated subgroup, MRG
mutations were rare $(9\%)$ and showed no prognostic impact.
Conversely, in FLT3-ITD/NPM1 wildtype AML, MRG mutations
were predictive of shorter RFS (HR 1.37, $95\%CI$ 1.01 -
1.88, p = 0.046) and OS (HR 1.34, $95\%CI$ 1.02-1.74, p =
0.032) in multivariable analysis with survival times
comparable to the ELN adverse risk category. The allelic
ratio of FLT3-ITD did not further stratify OS and RFS in
this subgroup. These findings suggest that the prognostic
relevance of MRG mutations in FLT3-ITD AML is modulated by
NPM1 co-mutational status and mirror findings in AML lacking
FLT3-ITD.},
cin = {C060},
ddc = {610},
cid = {I:(DE-He78)C060-20160331},
pnm = {313 - Krebsrisikofaktoren und Prävention (POF4-313)},
pid = {G:(DE-HGF)POF4-313},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:41663622},
doi = {10.1038/s41375-026-02874-w},
url = {https://inrepo02.dkfz.de/record/309803},
}