Home > Publications Database > [Neuropathology of medulloblastomas and other CNS embryonal tumors : Precision diagnostics through the integration of genetic markers]. > print

001     140637
005     20231218134222.0
024 7 _ |a 10.1007/s00292-019-0580-9
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024 7 _ |a pmid:30790012
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024 7 _ |a 0172-8113
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024 7 _ |a 1432-1963
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037 _ _ |a DZNE-2020-06959
041 _ _ |a ger
082 _ _ |a 610
100 1 _ |a Pietsch, Torsten
|0 P:(DE-2719)2812617
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245 _ _ |a [Neuropathology of medulloblastomas and other CNS embryonal tumors : Precision diagnostics through the integration of genetic markers].
260 _ _ |a New York
|c 2019
|b Springer
264 _ 1 |3 online
|2 Crossref
|b Springer Science and Business Media LLC
|c 2019-02-21
264 _ 1 |3 print
|2 Crossref
|b Springer Science and Business Media LLC
|c 2019-03-01
336 7 _ |a article
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336 7 _ |a ARTICLE
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336 7 _ |a Journal Article
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520 _ _ |a 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.
536 _ _ |a 345 - Population Studies and Genetics (POF3-345)
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|c POF3-345
|f POF III
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542 _ _ |i 2019-02-21
|2 Crossref
|u http://www.springer.com/tdm
588 _ _ |a Dataset connected to CrossRef, PubMed,
650 _ 7 |a Genetic Markers
|2 NLM Chemicals
650 _ 2 |a Cerebellar Neoplasms
|2 MeSH
650 _ 2 |a Genetic Markers
|2 MeSH
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Medulloblastoma
|2 MeSH
650 _ 2 |a Neoplasms, Germ Cell and Embryonal
|2 MeSH
650 _ 2 |a Neuropathology
|2 MeSH
773 1 8 |a 10.1007/s00292-019-0580-9
|b : Springer Science and Business Media LLC, 2019-02-21
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|p 140-147
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|t Der Pathologe
|v 40
|y 2019
|x 0172-8113
773 _ _ |a 10.1007/s00292-019-0580-9
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856 4 _ |u https://pub.dzne.de/record/140637/files/DZNE-2020-06959_Restricted.pdf
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910 1 _ |a Deutsches Zentrum für Neurodegenerative Erkrankungen
|0 I:(DE-588)1065079516
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|6 P:(DE-2719)2812617
913 1 _ |a DE-HGF
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