The discovery of increasing numbers of gene mutations that have evolved into useful diagnostic biomarkers of CNS tumours has transformed the diagnostic approach and has contributed to more accurate classification of brain tumours. Many of these biomarkers are genetic alterations, such as point mutations, gene fusions, or chromosomal gains and losses. Yet a potentially even more transformational approach to clinically relevant classification of brain tumours may come from a readout of tumours’ epigenetic signatures, resulting in distinct profiles based on DNA methylation patterns.
This one-day workshop will provide a multifaceted view of epigenetic profiling in adult and paediatric brain tumour diagnostics. The workshop will convey the biological principles of epigenetics in health and disease with a focus on brain tumours and explain how methylation profiles are detected with current array technologies. The application of machine learning and the development of algorithms used for the classification of brain tumours will be presented. The introduction of methylation profiling and algorithmic classification into CNS tumour diagnostics in the UK will be complemented with examples how such approach can be applied to improve precision in paediatric and adult CNS tumour diagnostics. Also the limitations and pitfalls of this technology will be addressed.
Multidisciplinary approaches incorporating clinical - radiological – pathological correlations are essential for effective clinical management of patients with CNS tumours, and the clinical value of these diagnostic tests will be discussed in the workshop.
The workshop will be supplemented with interactive practical session where participants will have the opportunity to discuss the diagnostic approach to challenging adult and paediatric CNS tumour cases. These cases will be available to view in a digital format prior the workshop for registered participants and during the workshop.