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@ARTICLE{Custers:167780,
author = {L. Custers and E. Khabirova and T. H. H. Coorens and T. R.
W. Oliver and C. Calandrini and M. D. Young and F. A. Vieira
Braga and P. Ellis and L. Mamanova and H. Segers and A. Maat
and M. Kool$^*$ and E. W. Hoving and M. M. van den
Heuvel-Eibrink and J. Nicholson and K. Straathof and L. Hook
and R. R. de Krijger and C. Trayers and K. Allinson and S.
Behjati and J. Drost},
title = {{S}omatic mutations and single-cell transcriptomes reveal
the root of malignant rhabdoid tumours.},
journal = {Nature Communications},
volume = {12},
number = {1},
issn = {2041-1723},
address = {[London]},
publisher = {Nature Publishing Group UK},
reportid = {DKFZ-2021-00542},
pages = {1407},
year = {2021},
abstract = {Malignant rhabdoid tumour (MRT) is an often lethal
childhood cancer that, like many paediatric tumours, is
thought to arise from aberrant fetal development. The
embryonic root and differentiation pathways underpinning MRT
are not firmly established. Here, we study the origin of MRT
by combining phylogenetic analyses and single-cell mRNA
studies in patient-derived organoids. Comparison of somatic
mutations shared between cancer and surrounding normal
tissues places MRT in a lineage with neural crest-derived
Schwann cells. Single-cell mRNA readouts of MRT
differentiation, which we examine by reverting the genetic
driver mutation underpinning MRT, SMARCB1 loss, suggest that
cells are blocked en route to differentiating into
mesenchyme. Quantitative transcriptional predictions
indicate that combined HDAC and mTOR inhibition mimic MRT
differentiation, which we confirm experimentally. Our study
defines the developmental block of MRT and reveals potential
differentiation therapies.},
cin = {B062 / HD01},
ddc = {500},
cid = {I:(DE-He78)B062-20160331 / I:(DE-He78)HD01-20160331},
pnm = {312 - Funktionelle und strukturelle Genomforschung
(POF4-312)},
pid = {G:(DE-HGF)POF4-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:33658498},
doi = {10.1038/s41467-021-21675-6},
url = {https://inrepo02.dkfz.de/record/167780},
}