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@ARTICLE{Jepsen:300277,
author = {V. H. Jepsen$^*$ and A. Hanel and D. J. Picard$^*$ and R.
Bhave and R. Hasselmann$^*$ and J. Mehtonen and J.
Schliehe-Diecks$^*$ and C.-J. Kath$^*$ and V. Suppiyar$^*$
and Y. Prasad$^*$ and K. Schaal$^*$ and J.-W. Tu$^*$ and N.
Rüchel$^*$ and E. Kameri$^*$ and N. Qin$^*$ and H. Wang and
Z. Zhuang and R. Wagener$^*$ and L. Blümel$^*$ and T.
Lautwein and D. Hein$^*$ and D. Koppstein$^*$ and G. Kögler
and M. Remke$^*$ and S. Bhatia$^*$ and M. Heinäniemi and A.
Borkhardt$^*$ and U. Fischer$^*$},
title = {{H}1-0 is a specific mediator of the repressive
{ETV}6::{RUNX}1 transcriptional landscape in preleukemia and
{B} cell acute lymphoblastic leukemia.},
journal = {HemaSphere},
volume = {9},
number = {4},
issn = {2572-9241},
address = {Hoboken},
publisher = {John Wiley $\&$ Sons Ltd.},
reportid = {DKFZ-2025-00730},
pages = {e70116},
year = {2025},
abstract = {ETV6::RUNX1, the most common oncogenic fusion in pediatric
B cell precursor acute lymphoblastic leukemia (BCP-ALL),
induces a clinically silent preleukemic state that can
persist in carriers for over a decade and may progress to
overt leukemia upon acquisition of secondary lesions. The
mechanisms contributing to quiescence of ETV6::RUNX1+
preleukemic cells still remain elusive. In this study, we
identify linker histone H1-0 as a critical mediator of the
ETV6::RUNX1+ preleukemic state by employing human -induced
pluripotent stem cell (hiPSC) models engineered by using
CRISPR/Cas9 gene editing. Global gene expression analysis
revealed upregulation of H1-0 in ETV6::RUNX1+ hiPSCs that
was preserved upon hematopoietic differentiation. Moreover,
whole transcriptome data of 1,727 leukemia patient samples
showed significantly elevated H1-0 levels in ETV6::RUNX1+
BCP-ALL compared to other leukemia entities. Using
dual-luciferase promoter assays, we show that ETV6::RUNX1
induces H1-0 promoter activity. We further demonstrate that
depletion of H1-0 specifically inhibits ETV6::RUNX1
signature genes, including RAG1 and EPOR. Single-cell
sequencing showed that H1-0 is highly expressed in quiescent
hematopoietic cells. Importantly, H1-0 protein levels
correspond to susceptibility of BCP-ALL cells towards
histone deacetylase inhibitors (HDACis) and combinatorial
treatment using the H1-0-inducing HDACi Quisinostat showed
promising synergism with established chemotherapeutic drugs.
Taken together, our data identify H1-0 as a key regulator of
the ETV6::RUNX1+ transcriptome and indicate that the
addition of Quisinostat may be beneficial to target
non-responsive or relapsing ETV6::RUNX1+ BCP-ALL.},
cin = {ED01},
ddc = {610},
cid = {I:(DE-He78)ED01-20160331},
pnm = {899 - ohne Topic (POF4-899)},
pid = {G:(DE-HGF)POF4-899},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:40177616},
pmc = {pmc:PMC11962653},
doi = {10.1002/hem3.70116},
url = {https://inrepo02.dkfz.de/record/300277},
}