Brain 17 Vienna

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07.11.2017
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6. Which additional platforms are you going to implement
within the next 1-2 years?
0 10 20 30 40
Gene panel sequencing
Targeted gene sequencing
Methylation-specific PCR
Pyrosequencing
Fluorescence in situ hybridisation
Multiplex lig.-depend. probe amplification
Methylation array
No of respondents
Whole Exome/Genome/RNA seq
Other
None
60 % of neuropathologists aim at implementing one additional technique
• Limited
resources
• Already
broad
access
56
6. Which additional platforms are you going to implement
within the next 1-2 years?
0 10 20 30 40
Gene panel sequencing
Targeted gene sequencing
Methylation-specific PCR
Pyrosequencing
Fluorescence in situ hybridisation
Multiplex lig.-depend. probe amplification
Methylation array
No of respondents
Whole Exome/Genome/RNA seq
Other
None
6
2.7
1.9
1.5
4.5
1.3
10
8
4
3.7
High Low Income
57
Yes No No comment
7. Are you
concerned about
the analytical test
performance of any
of those markers?
8. If yes, which
marker would
you rate most
problematic?
IDH1
IDH2
1p19q
MGMT
ATRX
TERT
Other
0 5 10 15 20
0 25 50 75 100
No of respondents
%
Woehreretal,ClinNeuropathol2017 58
9. Is there a need for
guidelines on marker
testing?
10. Would you be
willing to participate in
a ring trial?
Yes No Uncertain
0 25 50 75 100 %
Woehreretal,ClinNeuropathol2017
Summary
59
• Post 2016 WHO survey focused on neuropathologists
• Neuropathologists uniformly ratemolecular marker testing as highly
relevant and already incorporate molecular information in their
diagnostic assessments
• Differences in access to crucial biomarkers and molecular
techniques across geographic regions AND within individual
countries
• Concerns regarding the validity of test assays (with MGMT, 1p 19q,
and ATRX being perceived most problematic) underline the need for
consensus guidelines on molecular marker testing (cIMPACT now,
Euro-CNS)
Woehreretal,ClinNeuropathol2017
Thank you.
60