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@ARTICLE{Schpf:286658,
      author       = {J. Schöpf$^*$ and S. Uhrig$^*$ and C. Heilig$^*$ and K.
                      Lee$^*$ and T. Walther$^*$ and A. Carazzato$^*$ and A.
                      Dobberkau$^*$ and D. Weichenhan$^*$ and C. Plass$^*$ and M.
                      Hartmann$^*$ and G. D. Diwan and Z. Carrero$^*$ and C.
                      Ball$^*$ and T. Hohl$^*$ and T. Kindler$^*$ and P. S.
                      Rudolph-Hähnel$^*$ and D. Helm$^*$ and M. Schneider$^*$ and
                      A. Nilsson and I. Øra and R. Imle$^*$ and A. Banito$^*$ and
                      R. B. Russell and B. Jones$^*$ and D. Lipka$^*$ and H.
                      Glimm$^*$ and D. Hübschmann$^*$ and W. Hartmann and S.
                      Fröhling$^*$ and C. Scholl$^*$},
      title        = {{M}ulti-omic and functional analysis for classification and
                      treatment of sarcomas with {FUS}-{TFCP}2 or {EWSR}1-{TFCP}2
                      fusions.},
      journal      = {Nature Communications},
      volume       = {15},
      number       = {1},
      issn         = {2041-1723},
      address      = {[London]},
      publisher    = {Nature Publishing Group UK},
      reportid     = {DKFZ-2024-00022},
      pages        = {51},
      year         = {2024},
      note         = {#EA:B290#EA:B340#LA:B290#LA:B340#},
      abstract     = {Linking clinical multi-omics with mechanistic studies may
                      improve the understanding of rare cancers. We leverage two
                      precision oncology programs to investigate rhabdomyosarcoma
                      with FUS/EWSR1-TFCP2 fusions, an orphan malignancy without
                      effective therapies. All tumors exhibit outlier ALK
                      expression, partly accompanied by intragenic deletions and
                      aberrant splicing resulting in ALK variants that are
                      oncogenic and sensitive to ALK inhibitors. Additionally,
                      recurrent CKDN2A/MTAP co-deletions provide a rationale for
                      PRMT5-targeted therapies. Functional studies show that
                      FUS-TFCP2 blocks myogenic differentiation, induces
                      transcription of ALK and truncated TERT, and inhibits DNA
                      repair. Unlike other fusion-driven sarcomas,
                      TFCP2-rearranged tumors exhibit genomic instability and
                      signs of defective homologous recombination. DNA methylation
                      profiling demonstrates a close relationship with
                      undifferentiated sarcomas. In two patients, sarcoma was
                      preceded by benign lesions carrying FUS-TFCP2, indicating
                      stepwise sarcomagenesis. This study illustrates the
                      potential of linking precision oncology with preclinical
                      research to gain insight into the classification,
                      pathogenesis, and therapeutic vulnerabilities of rare
                      cancers.},
      cin          = {B290 / B340 / HD01 / B370 / B280 / DD01 / FM01 / W120 /
                      B380},
      ddc          = {500},
      cid          = {I:(DE-He78)B290-20160331 / I:(DE-He78)B340-20160331 /
                      I:(DE-He78)HD01-20160331 / I:(DE-He78)B370-20160331 /
                      I:(DE-He78)B280-20160331 / I:(DE-He78)DD01-20160331 /
                      I:(DE-He78)FM01-20160331 / I:(DE-He78)W120-20160331 /
                      I:(DE-He78)B380-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:38168093},
      doi          = {10.1038/s41467-023-44360-2},
      url          = {https://inrepo02.dkfz.de/record/286658},
}