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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},
}