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@ARTICLE{Appay:131488,
      author       = {R. Appay and N. Macagno and L. Padovani and A.
                      Korshunov$^*$ and M. Kool$^*$ and N. André and D. Scavarda
                      and T. Pietsch and D. Figarella-Branger},
      title        = {{HGNET}-{BCOR} {T}umors of the {C}erebellum:
                      {C}linicopathologic and {M}olecular {C}haracterization of 3
                      {C}ases.},
      journal      = {The American journal of surgical pathology},
      volume       = {41},
      number       = {9},
      issn         = {0147-5185},
      address      = {Philadelphia, Pa.},
      publisher    = {Lippincott Williams $\&$ Wilkins},
      reportid     = {DKFZ-2017-06155},
      pages        = {1254 - 1260},
      year         = {2017},
      abstract     = {The central nervous system (CNS) high-grade neuroepithelial
                      tumor with BCOR alteration (CNS HGNET-BCOR) is a recently
                      described molecular entity. We report 3 new CNS HGNET-BCOR
                      cases sharing common clinical presentation and pathologic
                      features. The 3 cases concerned children aged 3 to 7 years
                      who presented with a voluminous mass of the cerebellum.
                      Pathologic features included proliferation of uniform
                      spindle to ovoid cells with fine chromatin associated with a
                      rich arborizing capillary network. Methylation profiling
                      classified these cases as CNS HGNET-BCOR tumors. Polymerase
                      chain reaction analysis confirmed the presence of internal
                      tandem duplications in the C-terminus of BCOR (BCOR-ITD), a
                      characteristic of these tumors, in all 3 cases.
                      Immunohistochemistry showed a strong nuclear BCOR
                      expression. In 2 cases, local recurrence occurred within 6
                      months. The third case, a patient who received a
                      craniospinal irradiation after total surgical removal
                      followed by a metronomics maintenance with irinotecan,
                      temozolomide, and itraconazole, is still free of disease 14
                      months after diagnosis. In summary, CNS HGNET-BCOR
                      represents a rare tumor occurring in young patients with
                      dismal prognosis. BCOR nuclear immunoreactivity is highly
                      suggestive of a BCOR-ITD. Whether CNS HGNET-BCOR should be
                      classified among the category of 'embryonal tumors' or
                      within the category of 'mesenchymal, nonmeningothelial
                      tumors' remains to be clarified. Because CNS HGNET-BCOR
                      share pathologic features and characteristic BCOR-ITD with
                      clear cell sarcoma of the kidney, these tumors may represent
                      local variants of the same entity.},
      keywords     = {BCOR protein, human (NLM Chemicals) / Proto-Oncogene
                      Proteins (NLM Chemicals) / Repressor Proteins (NLM
                      Chemicals)},
      cin          = {G380 / B062 / L101},
      ddc          = {610},
      cid          = {I:(DE-He78)G380-20160331 / I:(DE-He78)B062-20160331 /
                      I:(DE-He78)L101-20160331},
      pnm          = {319H - Addenda (POF3-319H)},
      pid          = {G:(DE-HGF)POF3-319H},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:28704208},
      doi          = {10.1097/PAS.0000000000000866},
      url          = {https://inrepo02.dkfz.de/record/131488},
}