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@ARTICLE{Koelsche:143358,
      author       = {C. Koelsche and M. Kriegsmann and F. K. F. Kommoss and D.
                      Stichel$^*$ and K. Kriegsmann and C. Vokuhl and T. G. P.
                      Grünewald$^*$ and L. Romero-Pérez and T. Kirchner$^*$ and
                      E. de Alava and J. Diaz-Martin and W. Hartmann and D.
                      Baumhoer and C. R. Antonescu and K. Szuhai and U. Flucke and
                      U. Dirksen and S. Pfister$^*$ and D. Jones$^*$ and G.
                      Mechtersheimer and A. von Deimling$^*$},
      title        = {{DNA} methylation profiling distinguishes {E}wing-like
                      sarcoma with {EWSR}1-{NFAT}c2 fusion from {E}wing sarcoma.},
      journal      = {Journal of cancer research and clinical oncology},
      volume       = {145},
      number       = {5},
      issn         = {0171-5216},
      address      = {Berlin},
      publisher    = {Springer42162},
      reportid     = {DKFZ-2019-00946},
      pages        = {1273-1281},
      year         = {2019},
      note         = {145(5):1273-1281},
      abstract     = {Recent studies revealed divergent gene expression patterns
                      in Ewing sarcoma (EwS) with canonical EWSR1-ETS gene fusions
                      and undifferentiated round cell sarcomas (URCS) with EWSR1
                      rearrangements fused to the non-ETS gene NFATc2. Thus, the
                      question arises whether the latter tumors really belong to
                      EwS.We collected five cases matching the group of URCS with
                      EWSR1-NFATc2 fusion and performed DNA methylation and copy
                      number profiling. Results were compared to methylation data
                      of 30 EwS with various EWSR1-ETS fusions and one EwS with
                      FUS-ERG fusion, 16 URCS with CIC rearrangement and 10 URCS
                      with BCOR alteration and a total of 81 EWSR1-associated soft
                      tissue sarcomas including 7 angiomatoid fibrous
                      histiocytomas, 7 clear cell sarcomas of the soft tissue, 28
                      desmoplastic small round cell tumors, 10 extraskeletal
                      myxoid chondrosarcomas and 29 myxoid
                      liposarcomas.Unsupervised hierarchical clustering and
                      t-distributed stochastic neighbor embedding analysis of DNA
                      methylation data revealed a homogeneous methylation cluster
                      for URCS with EWSR1-NFATc2 fusion, which clearly segregated
                      from EwS and the other subtypes. Copy number profiles of
                      EWSR1-NFATc2 cases showed recurrent losses on chromosome 9q
                      and segmental gains on 20q13 and 22q12 involving the EWSR1
                      and NFATc2 loci, respectively.In summary, URCS with
                      EWSR1-NFATc2 fusion share a distinct DNA methylation
                      signature and carry characteristic copy number alterations,
                      which emphasizes that these sarcomas should be considered
                      separately from EwS.},
      cin          = {B300 / E131 / B062 / B360 / L101 / L701},
      ddc          = {610},
      cid          = {I:(DE-He78)B300-20160331 / I:(DE-He78)E131-20160331 /
                      I:(DE-He78)B062-20160331 / I:(DE-He78)B360-20160331 /
                      I:(DE-He78)L101-20160331 / I:(DE-He78)L701-20160331},
      pnm          = {312 - Functional and structural genomics (POF3-312)},
      pid          = {G:(DE-HGF)POF3-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:30895378},
      doi          = {10.1007/s00432-019-02895-2},
      url          = {https://inrepo02.dkfz.de/record/143358},
}