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Practical implementation of DNA methylation and copy-number-based CNS tumor diagnostics

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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, Jahrgang 136, Nr. 2, 08.2018, S. 181-210.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

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, W, Witt, O, Milde, T, Korshunov, A, Pfister, SM & von Deimling, A 2018, 'Practical implementation of DNA methylation and copy-number-based CNS tumor diagnostics: the Heidelberg experience', ACTA NEUROPATHOL, Jg. 136, Nr. 2, S. 181-210. https://doi.org/10.1007/s00401-018-1879-y

APA

Capper, D., Stichel, D., Sahm, F., Jones, D. T. W., Schrimpf, D., Sill, M., Schmid, S., Hovestadt, V., Reuss, D. E., Koelsche, C., Reinhardt, A., Wefers, A. K., Huang, K., Sievers, P., Ebrahimi, A., Schöler, A., Teichmann, D., Koch, A., Hänggi, D., ... von Deimling, A. (2018). Practical implementation of DNA methylation and copy-number-based CNS tumor diagnostics: the Heidelberg experience. ACTA NEUROPATHOL, 136(2), 181-210. https://doi.org/10.1007/s00401-018-1879-y

Vancouver

Capper D, Stichel D, Sahm F, Jones DTW, Schrimpf D, Sill M et al. Practical implementation of DNA methylation and copy-number-based CNS tumor diagnostics: the Heidelberg experience. ACTA NEUROPATHOL. 2018 Aug;136(2):181-210. https://doi.org/10.1007/s00401-018-1879-y

Bibtex

@article{fa0c424486e94e3d857ce356f5ae0c8d,
title = "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.",
keywords = "Central Nervous System Neoplasms/classification, DNA Copy Number Variations/genetics, DNA Methylation/genetics, DNA Modification Methylases/genetics, DNA Repair Enzymes/genetics, Female, Humans, Isocitrate Dehydrogenase/genetics, Male, Neoplasm Proteins/genetics, Receptor Protein-Tyrosine Kinases/genetics, Retrospective Studies, Tumor Suppressor Proteins/genetics",
author = "David Capper and Damian Stichel and Felix Sahm and Jones, {David T W} and Daniel Schrimpf and Martin Sill and Simone Schmid and Volker Hovestadt and Reuss, {David E} and Christian Koelsche and Annekathrin Reinhardt and Wefers, {Annika K} and Kristin Huang and Philipp Sievers and Azadeh Ebrahimi and Anne Sch{\"o}ler and Daniel Teichmann and Arend Koch and Daniel H{\"a}nggi and Andreas Unterberg and Michael Platten and Wolfgang Wick and Olaf Witt and Till Milde and Andrey Korshunov and Pfister, {Stefan M} and {von Deimling}, Andreas",
year = "2018",
month = aug,
doi = "10.1007/s00401-018-1879-y",
language = "English",
volume = "136",
pages = "181--210",
journal = "ACTA NEUROPATHOL",
issn = "0001-6322",
publisher = "Springer",
number = "2",

}

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 -