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@ARTICLE{Pietsch:140637,
      author       = {Pietsch, Torsten},
      title        = {[{N}europathology of medulloblastomas and other {CNS}
                      embryonal tumors : {P}recision diagnostics through the
                      integration of genetic markers].},
      journal      = {Der Pathologe},
      volume       = {40},
      number       = {2},
      issn         = {0172-8113},
      address      = {New York},
      publisher    = {Springer},
      reportid     = {DZNE-2020-06959},
      pages        = {140-147},
      year         = {2019},
      abstract     = {The revised WHO classification of tumors of the central
                      nervous system (CNS) in 2016 introduced the concept of the
                      'integrated diagnosis.' The definition of medulloblastoma
                      entities now requires a combination of traditional
                      histological information with additional molecular/genetic
                      features. To define the histopathological component of the
                      medulloblastoma diagnosis, tumors have to be assigned to one
                      of the four histological entities: classic,
                      desmoplastic/nodular (DNMB), extensive nodular (MBEN), or
                      large cell/anaplastic (LC/A) medulloblastoma. The
                      genetically defined component is one of the four entities:
                      'WNT activated', 'SHH activated and TP53 wildtype', 'SHH
                      activated and TP53 mutant', or 'non-WNT/non-SHH
                      medulloblastoma.' Robust and validated methods are available
                      that allow a precise diagnosis of these medulloblastoma
                      entities according to the updated WHO classification and for
                      differential diagnostic purposes. An immunohistochemical
                      analysis of protein markers including ß‑Catenin, Yap1,
                      p75-NGFR, Otx2 and p53, in combination with targeted
                      sequencing and chromosomal copy number assessment (such as
                      FISH analysis for MYC genes), allows a precise
                      stratification of patients for risk-adapted treatment. The
                      group of other embryonic tumors of the central nervous
                      system includes embryonic tumors with multilayered rosettes
                      (ETMR), which frequently carry an amplification of the
                      micro-RNA cluster C19MC and the (ganglio-)neuroblastomas of
                      the CNS. These rare tumors can also be identified by
                      characteristic genetic and immunophenotypic features.},
      keywords     = {Cerebellar Neoplasms / Genetic Markers / Humans /
                      Medulloblastoma / Neoplasms, Germ Cell and Embryonal /
                      Neuropathology / Genetic Markers (NLM Chemicals)},
      cin          = {Brainbank Unit Bonn},
      ddc          = {610},
      cid          = {I:(DE-2719)1011009},
      pnm          = {345 - Population Studies and Genetics (POF3-345)},
      pid          = {G:(DE-HGF)POF3-345},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:30790012},
      doi          = {10.1007/s00292-019-0580-9},
      url          = {https://pub.dzne.de/record/140637},
}