% IMPORTANT: The following is UTF-8 encoded. This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.
@ARTICLE{Sollier:300224,
author = {E. Sollier$^*$ and A. Riedel$^*$ and U. Toprak$^*$ and J.
A. Wierzbinska$^*$ and D. Weichenhan$^*$ and J. P.
Schmid$^*$ and M. Hakobyan$^*$ and A. Touzart$^*$ and E.
Jahn and B. Vick$^*$ and F. Brown-Burke$^*$ and K. Kelly$^*$
and S. Kelekci$^*$ and A. Pejkovska$^*$ and A. Goyal$^*$ and
M. Bähr$^*$ and K. Breuer$^*$ and M.-J. Chen$^*$ and M.
Llamazares-Prada$^*$ and M. Hartmann$^*$ and M.
Schönung$^*$ and N. Correia and A. Trumpp and Y.
Abdullah$^*$ and U. Klingmüller$^*$ and S. S. Mughal$^*$
and B. Brors$^*$ and F. Westermann$^*$ and E. Ulrich$^*$ and
R. Autry$^*$ and M. Schlesner and S. Vosberg$^*$ and T.
Herold$^*$ and P. Greif$^*$ and D. Pfeifer and M. Lübbert
and T. Fischer and F. H. Heidel and G. Gebhard and W. Walter
and T. Haferlach and A.-K. Eisfeld and K. Mrózek and D.
Nicolet and L. Bullinger and L. Smeenk and C.
Erpelinck-Verschueren and R. Mulet-Lazaro and R. Delwel and
A. Ernst$^*$ and M. Scherer$^*$ and P. Lutsik$^*$ and I.
Jeremias$^*$ and K. Döhner and H. Döhner and D. Lipka$^*$
and C. Plass$^*$},
title = {{E}nhancer hijacking discovery in acute myeloid leukemia by
pyjacker identifies {MNX}1 activation via deletion 7q.},
journal = {Blood cancer discovery},
volume = {6},
number = {4},
issn = {2643-3230},
address = {Philadelphia, PA},
publisher = {American Association for Cancer Research},
reportid = {DKFZ-2025-00686},
pages = {343-363},
year = {2025},
note = {#EA:B370#EA:B087#LA:B370#LA:B340# / 2025 Jul
1;6(4):343-363},
abstract = {Acute myeloid leukemia with complex karyotype (ckAML) is
characterized by high genomic complexity, including frequent
TP53 mutations and chromothripsis. Genomic rearrangements
that reposition active enhancers near proto-oncogenes,
leading to their aberrant expression, have not been
systematically investigated in AML. To facilitate the
discovery of such 'enhancer hijacking' events, we developed
pyjacker, a computational tool, and applied it to 39 ckAML
samples. Pyjacker identified several enhancer hijacking
events in AML patient samples, including aberrant expression
of motor neuron and pancreas homeobox 1 (MNX1), which can
result from del(7)(q22q36) and is associated with hijacking
of a CDK6 enhancer. MNX1 activation occurs in $1.4\%$ of AML
patients and shows significant co-occurrence with BCOR
mutations. Through a xenograft mouse model, we demonstrated
that MNX1 is required for leukemia cell fitness. Pyjacker is
an easy-to-use, accurate, and broadly applicable tool for
identifying consequences of genomic events driving
tumorigenesis, especially when germline genomic data is
missing.},
cin = {B370 / B087 / MU01 / B340 / B200 / B330 / HD01 / B062 /
B420},
ddc = {610},
cid = {I:(DE-He78)B370-20160331 / I:(DE-He78)B087-20160331 /
I:(DE-He78)MU01-20160331 / I:(DE-He78)B340-20160331 /
I:(DE-He78)B200-20160331 / I:(DE-He78)B330-20160331 /
I:(DE-He78)HD01-20160331 / I:(DE-He78)B062-20160331 /
I:(DE-He78)B420-20160331},
pnm = {312 - Funktionelle und strukturelle Genomforschung
(POF4-312)},
pid = {G:(DE-HGF)POF4-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:40162972},
doi = {10.1158/2643-3230.BCD-24-0278},
url = {https://inrepo02.dkfz.de/record/300224},
}