Genome-wide DNA Methylation Profiling in Diagnostics of Central Nervous System Tumors

DNA methylation plays an important dynamic role in regulating gene expression. DNA methylation is highly related to cell-fate specification during cellular differentiation and allows cells to acquire and maintain a specialized cell state. Aberrant DNA methylations have been implicated in many disease processes, such as cancer and neurological and/or developmental disorders. The cancer methylome is a combination of both somatically acquired alterations of DNA methylation and characteristics of cell origin. Recent studies have shown that DNA methylation-based tumor classification can facilitate tumor classification and improve diagnostic accuracy. This presentation will share our experience with and key results of evaluating and validating the Infinium Methylation EPIC BeadChip array and DKFZ Central Nervous System (CNS) Tumor Classifier for DNA methylation-based classification of CNS tumors and the performance parameters assessment, including accuracy, sensitivity, specificity, as well as requirements of DNA and tumor content in a clinical setting.
After viewing this lecture, participants should be able to:
1. Understand the principle of DNA methylation profiling in diagnostics of cancer.
2. Identify analytical variables affecting the assay performance.
3. Understand the applications of DNA methylation profiling in diagnostics of CNS tumors.

Yajuan Liu, PhD, FACMG
Associate Professor of Laboratory Medicine and Pathology, University of Washington School of Medicine

12/08/21