Practical implementation of DNA methylation and copy-number-based CNS tumor diagnostics
Standard
Practical implementation of DNA methylation and copy-number-based CNS tumor diagnostics : the Heidelberg experience. / Capper, David; Stichel, Damian; Sahm, Felix; Jones, David T W; Schrimpf, Daniel; Sill, Martin; Schmid, Simone; Hovestadt, Volker; Reuss, David E; Koelsche, Christian; Reinhardt, Annekathrin; Wefers, Annika K; Huang, Kristin; Sievers, Philipp; Ebrahimi, Azadeh; Schöler, Anne; Teichmann, Daniel; Koch, Arend; Hänggi, Daniel; Unterberg, Andreas; Platten, Michael; Wick, Wolfgang; Witt, Olaf; Milde, Till; Korshunov, Andrey; Pfister, Stefan M; von Deimling, Andreas.
In: ACTA NEUROPATHOL, Vol. 136, No. 2, 08.2018, p. 181-210.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Harvard
APA
Vancouver
Bibtex
}
RIS
TY - JOUR
T1 - Practical implementation of DNA methylation and copy-number-based CNS tumor diagnostics
T2 - the Heidelberg experience
AU - Capper, David
AU - Stichel, Damian
AU - Sahm, Felix
AU - Jones, David T W
AU - Schrimpf, Daniel
AU - Sill, Martin
AU - Schmid, Simone
AU - Hovestadt, Volker
AU - Reuss, David E
AU - Koelsche, Christian
AU - Reinhardt, Annekathrin
AU - Wefers, Annika K
AU - Huang, Kristin
AU - Sievers, Philipp
AU - Ebrahimi, Azadeh
AU - Schöler, Anne
AU - Teichmann, Daniel
AU - Koch, Arend
AU - Hänggi, Daniel
AU - Unterberg, Andreas
AU - Platten, Michael
AU - Wick, Wolfgang
AU - Witt, Olaf
AU - Milde, Till
AU - Korshunov, Andrey
AU - Pfister, Stefan M
AU - von Deimling, Andreas
PY - 2018/8
Y1 - 2018/8
N2 - 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.
AB - 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.
KW - Central Nervous System Neoplasms/classification
KW - DNA Copy Number Variations/genetics
KW - DNA Methylation/genetics
KW - DNA Modification Methylases/genetics
KW - DNA Repair Enzymes/genetics
KW - Female
KW - Humans
KW - Isocitrate Dehydrogenase/genetics
KW - Male
KW - Neoplasm Proteins/genetics
KW - Receptor Protein-Tyrosine Kinases/genetics
KW - Retrospective Studies
KW - Tumor Suppressor Proteins/genetics
U2 - 10.1007/s00401-018-1879-y
DO - 10.1007/s00401-018-1879-y
M3 - SCORING: Journal article
C2 - 29967940
VL - 136
SP - 181
EP - 210
JO - ACTA NEUROPATHOL
JF - ACTA NEUROPATHOL
SN - 0001-6322
IS - 2
ER -