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@ARTICLE{Hasegawa:301550,
author = {N. Hasegawa and N. S. Benabdallah$^*$ and K. Smith-Fry and
L. Li and S. McCollum and J. Li and C. A. Jones and L.
Wagner$^*$ and V. Dalal$^*$ and V. Golde$^*$ and A.
Pejkovska$^*$ and L. Carroll and M. Haldar and S. M. Pollack
and S. W. Lowe and T. O. Nielsen and A. Banito$^*$ and K. B.
Jones},
title = {{DNA} demethylating agents suppress preclinical models of
synovial sarcoma.},
journal = {The journal of clinical investigation},
volume = {135},
number = {13},
issn = {0021-9738},
address = {Ann Arbor, Mich.},
publisher = {ASCJ},
reportid = {DKFZ-2025-01071},
pages = {e190855},
year = {2025},
note = {#EA:B380#LA:B380# / 2025 Apr 29;135(13):e190855},
abstract = {Synovial sarcoma is an aggressive soft tissue cancer driven
by the chimeric SS18::SSX fusion oncoprotein, which disrupts
chromatin remodeling by combining two antagonistic
transcriptional regulators. SS18 participates in BAF
complexes that open chromatin, while the SSX genes are
cancer-testis antigens that interface with chromatin
decorated with monoubiquitinated histone H2A placed by
Polycomb repressive complexes (PRCs) activity. Because KDM2B
brings PRC to unmethylated CpG islands, it is plausible that
methylation directly determines the distribution of
SS18::SSX to target loci. Given that synovial sarcoma is
also characterized by a peculiarly low DNA hypomethylation
profile, we hypothesized that further disturbance of DNA
methylation would have a negative impact on synovial sarcoma
growth. DNMT1 disruption by CRISPR/Cas9 targeting or
pharmacologic inhibition with cytidine analogs
5-aza-2'-deoxycytidine (decitabine) and 5-azacytidine led to
decreased genome-wide methylation, redistribution of
SS18::SSX, and altered gene expression profiles, most
prominently including upregulation of tumor suppressor
genes, immune-related genes, and mesenchymal
differentiation-related genes. These drugs suppressed growth
of synovial sarcoma cell lines and drove cytoreduction in
mouse genetic models. DNMT1 inhibitors, already approved for
treating myelodysplastic syndromes, warrant further clinical
investigation for synovial sarcoma as repurposed, targeted
treatments exploiting a vulnerability in the intrinsic
biology of this cancer.},
keywords = {Cancer (Other) / Epigenetics (Other) / Expression profiling
(Other) / Genetics (Other) / Oncology (Other)},
cin = {B380},
ddc = {610},
cid = {I:(DE-He78)B380-20160331},
pnm = {312 - Funktionelle und strukturelle Genomforschung
(POF4-312)},
pid = {G:(DE-HGF)POF4-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:40299558},
doi = {10.1172/JCI190855},
url = {https://inrepo02.dkfz.de/record/301550},
}