TY  - JOUR
AU  - Pietsch, Torsten
TI  - [Neuropathology of medulloblastomas and other CNS embryonal tumors : Precision diagnostics through the integration of genetic markers].
JO  - Der Pathologe
VL  - 40
IS  - 2
SN  - 0172-8113
CY  - New York
PB  - Springer
M1  - DZNE-2020-06959
SP  - 140-147
PY  - 2019
AB  - 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.
KW  - Cerebellar Neoplasms
KW  - Genetic Markers
KW  - Humans
KW  - Medulloblastoma
KW  - Neoplasms, Germ Cell and Embryonal
KW  - Neuropathology
KW  - Genetic Markers (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:30790012
DO  - DOI:10.1007/s00292-019-0580-9
UR  - https://pub.dzne.de/record/140637
ER  -