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@ARTICLE{Abe:277309,
      author       = {M. Abe and T. Ono and F. Hinz$^*$ and M. Takahashi and Y.
                      Hiroshima and K. Kodama and M. Yano and H. Nanjo and T.
                      Takahashi and A. von Deimling$^*$ and H. Shimizu},
      title        = {{D}etailed molecular and pathological analyses of primary
                      intracranial embryonal rhabdomyosarcoma with a {BRAF}
                      mutation: illustrative case.},
      journal      = {Journal of neurosurgery / Case lessons},
      volume       = {6},
      number       = {1},
      issn         = {2694-1902},
      address      = {Charlottesville, Va.},
      publisher    = {American Association of Neurological Surgeons},
      reportid     = {DKFZ-2023-01327},
      pages        = {CASE23207},
      year         = {2023},
      note         = {2023 Jul 3;6(1):CASE23207},
      abstract     = {The etiological significance of the RAS and PI3K pathways
                      has been reported in systemic embryonal rhabdomyosarcoma
                      (ERMS) but not in primary intracranial ERMS (PIERMS).
                      Herein, the authors present a unique case of PIERMS with a
                      BRAF mutation.A 12-year-old girl with progressive headache
                      and nausea was diagnosed with a tumor in the right parietal
                      lobe. Semi-emergency surgery revealed an intra-axial lesion
                      that was histopathologically identical to an ERMS.
                      Next-generation sequencing indicated a BRAF mutation as a
                      pathogenic variation, but the RAS and PI3K pathways showed
                      no alteration. Although there is no established reference
                      class for PIERMS, the DNA methylation prediction was closest
                      to that of ERMS, indicating the possibility of PIERMS. The
                      final diagnosis was PIERMS. The patient underwent local
                      radiotherapy (50.4 Gy) and multiagent chemotherapy, with no
                      recurrence for 12 months after surgery.This may be the first
                      case demonstrating the molecular features of PIERMS,
                      especially the intra-axial type. The results showed a
                      mutation in BRAF but not in the RAS and PI3K pathways, which
                      is different from the existing ERMS features. This molecular
                      difference may cause differences in DNA methylation
                      profiles. Accumulation of the molecular features of PIERMS
                      is necessary before any conclusions can be drawn.},
      keywords     = {BRAF (Other) / intra-axial tumor (Other) / methylation
                      profile (Other) / next-generation sequencing (Other) /
                      rhabdomyosarcoma (Other)},
      cin          = {B300 / HD01},
      ddc          = {610},
      cid          = {I:(DE-He78)B300-20160331 / I:(DE-He78)HD01-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:37392767},
      doi          = {10.3171/CASE23207},
      url          = {https://inrepo02.dkfz.de/record/277309},
}