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@ARTICLE{Shatara:178090,
      author       = {M. Shatara and K. M. Schieffer and D. Klawinski and D. L.
                      Thomas and C. R. Pierson and E. A. Sribnick and J. Jones and
                      D. P. Rodriguez and C. Deeg and E. Hamelberg and S. LaHaye
                      and K. E. Miller and J. Fitch and B. Kelly and K. Leraas and
                      R. Pfau and P. White and V. Magrini and R. K. Wilson and E.
                      R. Mardis and M. S. Abdelbaki and J. L. Finlay and D. R.
                      Boué and C. E. Cottrell and D. R. Ghasemi$^*$ and K. W.
                      Pajtler$^*$ and D. S. Osorio},
      title        = {{C}linically aggressive pediatric spinal ependymoma with
                      novel {MYC} amplification demonstrates molecular and
                      histopathologic similarity to newly described
                      {MYCN}-amplified spinal ependymomas.},
      journal      = {Acta Neuropathologica Communications},
      volume       = {9},
      number       = {1},
      issn         = {2051-5960},
      address      = {London},
      publisher    = {Biomed Central},
      reportid     = {DKFZ-2021-03097},
      pages        = {192},
      year         = {2021},
      abstract     = {Primary spinal cord tumors contribute to ≤ $10\%$ of
                      central nervous system tumors in individuals of pediatric or
                      adolescent age. Among intramedullary tumors, spinal
                      ependymomas make up ~ $30\%$ of this rare tumor population.
                      A twelve-year-old male presented with an intradural,
                      extramedullary mass occupying the dorsal spinal canal from
                      C6 through T2. Gross total resection and histopathology
                      revealed a World Health Organization (WHO) grade 2
                      ependymoma. He recurred eleven months later with extension
                      from C2 through T1-T2. Subtotal resection was achieved
                      followed by focal proton beam irradiation and chemotherapy.
                      Histopathology was consistent with WHO grade 3 ependymoma.
                      Molecular profiling of the primary and recurrent tumors
                      revealed a novel amplification of the MYC (8q24) gene, which
                      was confirmed by fluorescence in situ hybridization studies.
                      Although MYC amplification in spinal ependymoma is
                      exceedingly rare, a newly described classification of spinal
                      ependymoma harboring MYCN (2p24) amplification (SP-MYCN) has
                      been defined by DNA methylation-array based profiling. These
                      individuals typically present with a malignant progression
                      and dismal outcomes, contrary to the universally excellent
                      survival outcomes seen in other spinal ependymomas. DNA
                      methylation array-based classification confidently
                      classified this tumor as SP-MYCN ependymoma. Notably, among
                      the cohort of 52 tumors comprising the SP-MYCN methylation
                      class, none harbor MYC amplification, highlighting the
                      rarity of this genomic amplification in spinal ependymoma. A
                      literature review comparing our individual to reported
                      SP-MYCN tumors (n = 26) revealed similarities in clinical,
                      histopathologic, and molecular features. Thus, we provide
                      evidence from a single case to support the inclusion of MYC
                      amplified spinal ependymoma within the molecular subgroup of
                      SP-MYCN.},
      keywords     = {Amplification (Other) / DNA methylation array (Other) /
                      Ependymoma (Other) / FISH (Other) / MYC (Other) / MYCN
                      (Other) / Pediatric (Other) / Spinal (Other)},
      cin          = {B062 / HD01},
      ddc          = {610},
      cid          = {I:(DE-He78)B062-20160331 / 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:34895332},
      doi          = {10.1186/s40478-021-01296-2},
      url          = {https://inrepo02.dkfz.de/record/178090},
}