INSP-14. Novel approaches to molecular diagnostics

The 2021 WHO classification of brain tumors introduces a variety of novel tumor types and subtypes, especially in pediatric neuro-oncology. Most of these tumor types are characterized by specific molecular profiles and alterations. In turn, diagnostic molecular evaluation of brain tumor specimen becomes substantially more complex. The talk will review the basic concepts of the new WHO classification and present novel methodology developments with the respective implications in diagnostic routine. This covers, first, RNA sequencing for fusion detection and expression profiling, highlighting examples of novel tumor types identified by pathognomonic rearrangements. Second, long-read sequencing approaches selecting DNA fragments of interest during sequencing will be discussed. Third, an outlook on the use of artificial intelligence to classify and detect molecular alterations based on H&E staning alone will be provided.