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  <ref-type name="Journal Article">17</ref-type>
  <contributors>
    <authors>
      <author>Pietsch, Torsten</author>
    </authors>
    <subsidiary-authors>
      <author>Brainbank Unit Bonn</author>
    </subsidiary-authors>
  </contributors>
  <titles>
    <title>[Neuropathology of medulloblastomas and other CNS embryonal tumors : Precision diagnostics through the integration of genetic markers].</title>
    <secondary-title>Der Pathologe</secondary-title>
  </titles>
  <periodical>
    <full-title>Der Pathologe</full-title>
  </periodical>
  <publisher>Springer</publisher>
  <pub-location>New York</pub-location>
  <isbn>0172-8113</isbn>
  <electronic-resource-num>10.1007/s00292-019-0580-9</electronic-resource-num>
  <language>ger</language>
  <pages>140-147</pages>
  <number>2</number>
  <volume>40</volume>
  <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.</abstract>
  <notes/>
  <label>PUB:(DE-HGF)16, ; 0, ; </label>
  <keywords>
    <keyword>Cerebellar Neoplasms</keyword>
    <keyword>Genetic Markers</keyword>
    <keyword>Humans</keyword>
    <keyword>Medulloblastoma</keyword>
    <keyword>Neoplasms, Germ Cell and Embryonal</keyword>
    <keyword>Neuropathology</keyword>
    <keyword>Genetic Markers</keyword>
  </keywords>
  <accession-num/>
  <work-type>Journal Article</work-type>
  <dates>
    <pub-dates>
      <year>2019</year>
    </pub-dates>
  </dates>
  <accession-num>DZNE-2020-06959</accession-num>
  <year>2019</year>
  <custom6>pmid:30790012</custom6>
  <urls>
    <related-urls>
      <url>https://pub.dzne.de/record/140637</url>
      <url>https://doi.org/10.1007/s00292-019-0580-9</url>
    </related-urls>
  </urls>
</record>

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