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@ARTICLE{Funk:305417,
author = {C. Funk$^*$ and A. Ehlers$^*$ and M. F. Orth and K.
Aljakouch$^*$ and J. Li$^*$ and T. L. Hoelting$^*$ and R.
Will$^*$ and F. H. Geyer$^*$ and A. K. Ceranski$^*$ and F.
Willis and E. Vinca$^*$ and S. Ohmura$^*$ and R. Imle$^*$
and J. Siebenlist$^*$ and A. Yershova$^*$ and M. M. Knott
and F. Zahnow$^*$ and A. Sastre and J. Alonso and F.
Sahm$^*$ and H. Peterziel and A. Loboda and M. Schneider and
A. Banito$^*$ and G. Leprivier and W. Hartmann and U.
Dirksen and O. Witt$^*$ and I. Oehme$^*$ and S. M.
Pfister$^*$ and L. Romero-Pérez$^*$ and J. Krijgsveld$^*$
and F. Cidre-Aranaz$^*$ and T. Grünewald$^*$ and J.
Musa$^*$},
title = {{H}igh 4{E}-{BP}-1 expression associates with chromosome 8
gain and {CDK}4/6 sensitivity in {E}wing {S}arcoma.},
journal = {The journal of clinical investigation},
volume = {nn},
issn = {0021-9738},
address = {Ann Arbor, Mich.},
publisher = {ASCJ},
reportid = {DKFZ-2025-02146},
pages = {nn},
year = {2025},
note = {#EA:B410#LA:B410# / epub},
abstract = {Chromosome 8 (chr8) gains are common in cancer, but their
contribution to tumor heterogeneity is largely unexplored.
Ewing sarcoma (EwS) is defined by FET::ETS fusions with few
other recurrent mutations to explain clinical diversity. In
EwS, chr8 gains are the second most frequent alteration,
making it an ideal model to study their relevance in an
otherwise silent genomic context. We report that chr8
gain-driven expression patterns correlate with poor overall
survival of EwS patients. This effect is mainly mediated by
increased expression of the translation initiation factor
binding protein 4E-BP1, encoded by EIF4EBP1 on chr8. Among
all chr8-encoded genes, EIF4EBP1 expression showed the
strongest association with poor survival and correlated with
chr8 gains in EwS tumors. Similar findings emerged across
multiple TCGA cancer entities. Multi-omics profiling
revealed that 4E-BP1 orchestrates a pro-proliferative
proteomic network. Silencing 4E-BP1 reduced proliferation,
clonogenicity, spheroidal growth in vitro, and tumor growth
in vivo. Drug screens demonstrated that high 4E-BP1
expression sensitizes EwS to pharmacological
CDK4/6-inhibition. Chr8 gains and elevated 4E-BP1 emerge as
prognostic biomarkers in EwS, with poor outcomes driven by
4E-BP1-mediated pro-proliferative networks that sensitize
tumors to CDK4/6 inhibitors. Testing for chr8 gains may
enhance risk stratification and therapy in EwS and other
cancers.},
keywords = {Cancer (Other) / Genetic variation (Other) / Genetics
(Other) / Mouse models (Other) / Oncology (Other)},
cin = {B410 / B230 / W111 / B380 / B300 / B310 / B062},
ddc = {610},
cid = {I:(DE-He78)B410-20160331 / I:(DE-He78)B230-20160331 /
I:(DE-He78)W111-20160331 / I:(DE-He78)B380-20160331 /
I:(DE-He78)B300-20160331 / I:(DE-He78)B310-20160331 /
I:(DE-He78)B062-20160331},
pnm = {312 - Funktionelle und strukturelle Genomforschung
(POF4-312)},
pid = {G:(DE-HGF)POF4-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:41100815},
doi = {10.1172/JCI187627},
url = {https://inrepo02.dkfz.de/record/305417},
}