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@ARTICLE{CreusBachiller:284601,
author = {E. Creus-Bachiller and J. Fernández-Rodríguez and M.
Magallón-Lorenz and S. Ortega-Bertran and S. Navas-Rutete
and C. Romagosa and T. M. Silva and M. Pané and A. Estival
and D. P. Sidelnikova and M. Morell and H. Mazuelas and M.
Carrió and T. Lausová$^*$ and D. Reuss$^*$ and B. Gel and
A. Villanueva and E. Serra and C. Lázaro},
title = {{E}xpanding a precision medicine platform for malignant
peripheral nerve sheath tumors: new patient-derived
orthotopic xenografts, cell lines and tumor entities.},
journal = {Molecular oncology},
volume = {18},
number = {4},
issn = {1574-7891},
address = {Hoboken, NJ},
publisher = {John Wiley $\&$ Sons, Inc.},
reportid = {DKFZ-2023-02021},
pages = {895-917},
year = {2024},
note = {2024 Apr;18(4):895-917},
abstract = {Malignant peripheral nerve sheath tumors (MPNSTs) are
aggressive soft tissue sarcomas with a poor survival rate,
presenting either sporadically or in the context of
neurofibromatosis type 1 (NF1). The histological diagnosis
of MPNSTs can be challenging, with different tumors
exhibiting great histological and marker expression overlap.
This heterogeneity could be partly responsible for the
observed disparity in treatment response due to the inherent
diversity of the preclinical models used. For several years,
our group has been generating a large patient-derived
orthotopic xenograft (PDOX) MPNST platform for identifying
new precision medicine treatments. Herein, we describe the
expansion of this platform using six primary tumors
clinically diagnosed as MPNSTs, from which we obtained six
additional PDOX mouse models and three cell lines, thus
generating three pairs of in vitro-in vivo models. We
extensively characterized these tumors and derived
preclinical models, including genomic, epigenomic and
histological analyses. Tumors were reclassified after these
analyses: three remained as MPNSTs (two being classic
MPNSTs), one was a melanoma, another an Neurotrophic
tyrosine receptor kinase (NTRK)-rearranged spindle cell
neoplasm, and, finally, an unclassifiable tumor bearing
Neurofibromin-2 (NF2) inactivation, an Neuroblastoma RAS
Viral Oncogene Homolog (NRAS) oncogenic mutation and a
SWI/SNF-related Matrix associated Actin-dependent Regulator
of Chromatin (SMARCA4) heterozygous truncated variant. New
cell lines and PDOXs faithfully recapitulated histology,
marker expression and genomic characteristics of the primary
tumors. The diversity in tumor identity and their specific
associated genomic alterations impacted on treatment
responses obtained when we used the new cell lines for
testing compounds against known altered pathways in MPNSTs.
In summary, we present here an extension of our MPNST
precision medicine platform, with new PDOXs and cell lines,
including tumor entities confounded as MPNSTs in a real
clinical scenario. This platform may constitute a useful
tool for obtaining correct preclinical information to guide
MPNST clinical trials.},
keywords = {MPNST (Other) / NF1 (Other) / PDOX (Other) / cellular
models (Other) / treatment response (Other) / tumor entities
(Other)},
cin = {B300 / HD01},
ddc = {610},
cid = {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:37798904},
doi = {10.1002/1878-0261.13534},
url = {https://inrepo02.dkfz.de/record/284601},
}