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@ARTICLE{Kats:294744,
author = {I. Kats$^*$ and M. Simovic-Lorenz$^*$ and H. Schreiber$^*$
and P. Sant$^*$ and J.-P. Mallm$^*$ and V. Körber and A.
Li$^*$ and P. Velmurugan$^*$ and S. Heuer$^*$ and L.
Kües$^*$ and F. Devens$^*$ and M. Sill$^*$ and M.
Jugold$^*$ and M. Moustafa$^*$ and A. Abdollahi$^*$ and F.
Winkler$^*$ and A. Korshunov$^*$ and S. Pfister$^*$ and O.
Stegle$^*$ and A. Ernst$^*$},
title = {{S}patio-temporal transcriptomics of chromothriptic
{SHH}-medulloblastoma identifies multiple genetic clones
that resist treatment and drive relapse.},
journal = {Nature Communications},
volume = {15},
number = {1},
issn = {2041-1723},
address = {[London]},
publisher = {Nature Publishing Group UK},
reportid = {DKFZ-2024-02459},
pages = {10370},
year = {2024},
note = {#EA:B260#LA:B420#LA:B420#},
abstract = {Paediatric medulloblastomas with chromothripsis are
characterised by high genomic instability and are among the
tumours with the worst prognosis. However, the molecular
makeup and the determinants of the aggressiveness of
chromothriptic medulloblastoma are not well understood.
Here, we apply spatial transcriptomics to profile a cohort
of 13 chromothriptic and non-chromothriptic medulloblastomas
from the same molecular subgroup. Our data reveal a higher
extent of spatial intra-tumour heterogeneity in
chromothriptic medulloblastomas compared to
non-chromothripictic tumours, which is associated with
increased proliferation and stemness, but lower immune
infiltration and differentiation. Spatial mapping of genetic
subclones of the same tumour identify a regionally distinct
architecture and clone-specific phenotypic features, with
distinct degrees of differentiation, proliferation and
immune infiltration between clones. We conduct temporal
profiling of 11 samples from patient-derived xenografts from
a patient with chromothriptic medulloblastoma, covering the
transition from the minimal residual disease stage to
treatment-resistant regrown tumours. In chromothriptic
medulloblastoma, an ecosystem of cells from multiple genetic
clones resist treatment and lead to relapse. Finally, we
identify tumour microtubes in chromothriptic
medulloblastoma, calling for exploration of cell network
communication as a putative target.},
keywords = {Medulloblastoma: genetics / Medulloblastoma: pathology /
Medulloblastoma: metabolism / Humans / Cerebellar Neoplasms:
genetics / Cerebellar Neoplasms: pathology / Cerebellar
Neoplasms: metabolism / Animals / Transcriptome / Hedgehog
Proteins: metabolism / Hedgehog Proteins: genetics /
Neoplasm Recurrence, Local: genetics / Chromothripsis /
Child / Mice / Male / Female / Child, Preschool / Gene
Expression Regulation, Neoplastic / Cell Proliferation:
genetics / Gene Expression Profiling / Genomic Instability /
Clone Cells / Hedgehog Proteins (NLM Chemicals) / SHH
protein, human (NLM Chemicals)},
cin = {B260 / B420 / W192 / B320 / B062 / W240 / E210 / B300 /
HD01},
ddc = {500},
cid = {I:(DE-He78)B260-20160331 / I:(DE-He78)B420-20160331 /
I:(DE-He78)W192-20160331 / I:(DE-He78)B320-20160331 /
I:(DE-He78)B062-20160331 / I:(DE-He78)W240-20160331 /
I:(DE-He78)E210-20160331 / I:(DE-He78)B300-20160331 /
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:39609432},
pmc = {pmc:PMC11604656},
doi = {10.1038/s41467-024-54709-w},
url = {https://inrepo02.dkfz.de/record/294744},
}