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@ARTICLE{Wegert:136830,
author = {J. Wegert and C. Vokuhl and G. Collord and M. Del Castillo
Velasco-Herrera and S. J. Farndon and C. Guzzo and M.
Jorgensen and J. Anderson and O. Slater and C. Duncan and S.
Bausenwein and H. Streitenberger and B. Ziegler and R.
Furtwängler and N. Graf and M. R. Stratton and P. J.
Campbell and D. Jones$^*$ and C. Koelsche$^*$ and S.
Pfister$^*$ and W. Mifsud and N. Sebire and M. Sparber-Sauer
and E. Koscielniak and A. Rosenwald and M. Gessler and S.
Behjati},
title = {{R}ecurrent intragenic rearrangements of {EGFR} and {BRAF}
in soft tissue tumors of infants.},
journal = {Nature Communications},
volume = {9},
number = {1},
issn = {2041-1723},
address = {London},
publisher = {Nature Publishing Group},
reportid = {DKFZ-2018-01268},
pages = {2378},
year = {2018},
abstract = {Soft tissue tumors of infancy encompass an overlapping
spectrum of diseases that pose unique diagnostic and
clinical challenges. We studied genomes and transcriptomes
of cryptogenic congenital mesoblastic nephroma (CMN), and
extended our findings to five anatomically or histologically
related soft tissue tumors: infantile fibrosarcoma (IFS),
nephroblastomatosis, Wilms tumor, malignant rhabdoid tumor,
and clear cell sarcoma of the kidney. A key finding is
recurrent mutation of EGFR in CMN by internal tandem
duplication of the kinase domain, thus delineating CMN from
other childhood renal tumors. Furthermore, we identify BRAF
intragenic rearrangements in CMN and IFS. Collectively these
findings reveal novel diagnostic markers and therapeutic
strategies and highlight a prominent role of isolated
intragenic rearrangements as drivers of infant tumors.},
cin = {B062 / L101 / B300},
ddc = {500},
cid = {I:(DE-He78)B062-20160331 / I:(DE-He78)L101-20160331 /
I:(DE-He78)B300-20160331},
pnm = {312 - Functional and structural genomics (POF3-312)},
pid = {G:(DE-HGF)POF3-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:29915264},
pmc = {pmc:PMC6006309},
doi = {10.1038/s41467-018-04650-6},
url = {https://inrepo02.dkfz.de/record/136830},
}