%0 Journal Article %1 Capper:2018:Acta-Neuropathol:29967940 %A Capper, D %A Stichel, D %A Sahm, F %A Jones, D T W %A Schrimpf, D %A Sill, M %A Schmid, S %A Hovestadt, V %A Reuss, D E %A Koelsche, C %A Reinhardt, A %A Wefers, A K %A Huang, K %A Sievers, P %A Ebrahimi, A %A Schöler, A %A Teichmann, D %A Koch, A %A Hänggi, D %A Unterberg, A %A Platten, M %A Wick, W %A Witt, O %A Milde, T %A Korshunov, A %A Pfister, S M %A von Deimling, A %D 2018 %J Acta Neuropathol %K %N 2 %P 181-210 %R 10.1007/s00401-018-1879-y %T Practical implementation of DNA methylation and copy-number-based CNS tumor diagnostics: the Heidelberg experience %U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6060790/ %V 136 %X 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.

@article{Capper:2018:Acta-Neuropathol:29967940, 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.}, added-at = {2019-01-03T20:13:54.000+0100}, author = {Capper, D and Stichel, D and Sahm, F and Jones, D T W and Schrimpf, D and Sill, M and Schmid, S and Hovestadt, V and Reuss, D E and Koelsche, C and Reinhardt, A and Wefers, A K and Huang, K and Sievers, P and Ebrahimi, A and Sch{\"o}ler, A and Teichmann, D and Koch, A and H{\"a}nggi, D and Unterberg, A and Platten, M and Wick, W and Witt, O and Milde, T and Korshunov, A and Pfister, S M and von Deimling, A}, biburl = {https://www.bibsonomy.org/bibtex/251a439594c173ec45fc26a9260e6eef4/marcsaric}, doi = {10.1007/s00401-018-1879-y}, interhash = {186ad5724304318ce2f35f98a308d5bc}, intrahash = {51a439594c173ec45fc26a9260e6eef4}, journal = {Acta Neuropathol}, keywords = {}, month = aug, number = 2, pages = {181-210}, pmid = {29967940}, timestamp = {2019-01-03T20:13:54.000+0100}, title = {Practical implementation of DNA methylation and copy-number-based CNS tumor diagnostics: the Heidelberg experience}, url = {https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6060790/}, volume = 136, year = 2018 }