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000140637 1001_ $$0P:(DE-2719)2812617$$aPietsch, Torsten$$b0$$eFirst author$$udzne
000140637 245__ $$a[Neuropathology of medulloblastomas and other CNS embryonal tumors : Precision diagnostics through the integration of genetic markers].
000140637 260__ $$aNew York$$bSpringer$$c2019
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000140637 520__ $$aThe 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.
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000140637 650_7 $$2NLM Chemicals$$aGenetic Markers
000140637 650_2 $$2MeSH$$aCerebellar Neoplasms
000140637 650_2 $$2MeSH$$aGenetic Markers
000140637 650_2 $$2MeSH$$aHumans
000140637 650_2 $$2MeSH$$aMedulloblastoma
000140637 650_2 $$2MeSH$$aNeoplasms, Germ Cell and Embryonal
000140637 650_2 $$2MeSH$$aNeuropathology
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