Practical implementation of DNA methylation and copy-number-based CNS tumor diagnostics: the Heidelberg experience.

Abstract:

:Recently, we described a machine learning approach for classification of central nervous system tumors based on the analysis of genome-wide DNA methylation patterns [6]. Here, we report on DNA methylation-based central nervous system (CNS) tumor diagnostics conducted in our institution between the years 2015 and 2018. In this period, more than 1000 tumors from the neurosurgical departments in Heidelberg and Mannheim and more than 1000 tumors referred from external institutions were subjected to DNA methylation analysis for diagnostic purposes. We describe our current approach to the integrated diagnosis of CNS tumors with a focus on constellations with conflicts between morphological and molecular genetic findings. We further describe the benefit of integrating DNA copy-number alterations into diagnostic considerations and provide a catalog of copy-number changes for individual DNA methylation classes. We also point to several pitfalls accompanying the diagnostic implementation of DNA methylation profiling and give practical suggestions for recurring diagnostic scenarios.

journal_name

Acta Neuropathol

journal_title

Acta neuropathologica

authors

Capper D,Stichel D,Sahm F,Jones DTW,Schrimpf D,Sill M,Schmid S,Hovestadt V,Reuss DE,Koelsche C,Reinhardt A,Wefers AK,Huang K,Sievers P,Ebrahimi A,Schöler A,Teichmann D,Koch A,Hänggi D,Unterberg A,Platten M,Wick

doi

10.1007/s00401-018-1879-y

subject

Has Abstract

pub_date

2018-08-01 00:00:00

pages

181-210

issue

2

eissn

0001-6322

issn

1432-0533

pii

10.1007/s00401-018-1879-y

journal_volume

136

pub_type

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