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

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.

http://link.springer.com/10.1007/s00401-018-1879-y

Source: Acta Neuropathologica - July 2, 2018 Category: Neurology Source Type: research