Brain 17 Vienna
07.11.2017
Glioblastoma
Diffuse midline glioma
• New pattern: Glioblastoma with primitive neuronal component
• K27M mutations in histone H3 gene H3F3A defines a group
Mutation-specific antibody
MYCN amp
Louiset al, Acta Neuropath 2016
Louiset al, Acta Neuropath 2016
Pattern =Histological features without clear clinical significance
New diagnostic entity
31
32
Embryonal tumors
How many medulloblastoma groups are (currently) defined based on genetics?
Greatest conceptual challenge
• A1. 3
• A2. 4
A2 is correct
• A3. 5
Dismissal of “PNET, primitive neuroectodermal tumor“ -> “Embryonal tumor“
• A4. 9
33
34
Medulloblastoma
Medulloblastoma
Four genetically defined groups
Long established histological groups
Surrogate IHC markers for pathway activation
+ TP53 sequencing + MYC amplification by FISH
Genetics & histology & clinical factors stratify patients into risk groups
Louis DN et al, Acta Neuropathol 2016
Northcott et al, Nature Reviews 2012
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36
6
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