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@ARTICLE{Jour:147225,
      author       = {G. Jour and J. Serrano and C. Koelsche and D. T. W.
                      Jones$^*$ and A. von Deimling and J. Allen and M. Snuderl},
      title        = {{P}rimary {CNS} {A}lveolar {R}habdomyosarcoma: {I}mportance
                      of {E}pigenetic and {T}ranscriptomic {A}ssays for {A}ccurate
                      {D}iagnosis.},
      journal      = {Journal of neuropathology and experimental neurology},
      volume       = {78},
      number       = {11},
      issn         = {1554-6578},
      address      = {Philadelphia, Pa. [u.a.]},
      publisher    = {Lippincott Williams $\&$ Wilkins},
      reportid     = {DKFZ-2019-02351},
      pages        = {1073 - 1075},
      year         = {2019},
      abstract     = {We present the case of a 22-year-old woman who developed
                      increasing headaches, nausea, and vomiting. Imaging
                      identified a 3 × 3 cm heterogeneously enhancing
                      cystic mass in the posterior III ventricular/pineal region.
                      Pathology review of the initial lesion revealed a highly
                      malignant spindle cell neoplasm composed of round to mostly
                      oval elongated cells with relatively small amounts of
                      cytoplasm arranged in sheets and fascicles with focal
                      storiform pattern. Whole genome methylation analysis through
                      unsupervised clustering with data generated from other
                      primary intracranial tumors and peripheral sarcomas was
                      performed at the German Cancer Research Center (DKFZ) and
                      classified the tumor with the group of alveolar
                      rhabdomyosarcomas (ARMS). Further RNA sequencing revealed an
                      in frame PAX3 (EX 7)-NCOA2 (EX12) fusion confirming the
                      diagnosis. This is the first evidence of occurrence of
                      PAX3-NCOA2 in primary CNS ARMS.},
      cin          = {B360 / L101},
      ddc          = {610},
      cid          = {I:(DE-He78)B360-20160331 / I:(DE-He78)L101-20160331},
      pnm          = {312 - Functional and structural genomics (POF3-312)},
      pid          = {G:(DE-HGF)POF3-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:31553442},
      doi          = {10.1093/jnen/nlz083},
      url          = {https://inrepo02.dkfz.de/record/147225},
}