Journal Article

DZNE-2020-06959

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png [Neuropathology of medulloblastomas and other CNS embryonal tumors : Precision diagnostics through the integration of genetic markers].

Pietsch, T. (First author)DZNE*

2019
Springer New York

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Please use a persistent id in citations: doi:10.1007/s00292-019-0580-9

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.

Keyword(s): Cerebellar Neoplasms (MeSH) ; Genetic Markers (MeSH) ; Humans (MeSH) ; Medulloblastoma (MeSH) ; Neoplasms, Germ Cell and Embryonal (MeSH) ; Neuropathology (MeSH) ; Genetic Markers

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Contributing Institute(s):

1. Brainbank Unit Bonn (Brainbank Unit Bonn)

Research Program(s):

1. 345 - Population Studies and Genetics (POF3-345) (POF3-345)

Appears in the scientific report 2019

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Database coverage:
; Clarivate Analytics Master Journal List ; Current Contents - Life Sciences ; IF < 5 ; JCR ; Nationallizenz ; SCOPUS ; Web of Science Core Collection

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