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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},
}