Optimising biomarkers for accurate ependymoma diagnosis, prognostication and stratification within International Clinical Trials: A BIOMECA study.
Rebecca J ChapmanDavid R GhasemiFelipe AndreiuoloValentina ZschernackArnault Tauziede EspariatFrancesca R ButtarelliFelice GiangasperoJacques GrillChristine HaberlerSimon M L PaineIan ScottThomas S JacquesMartin SillStefan PfisterJohn-Paul KildayPierre LeblondMaura MassiminoHendrik WittPiergiorgio ModenaPascale VarletTorsten PietschRichard G GrundyKristian W PajtlerTimothy A Ritzmannnull nullPublished in: Neuro-oncology (2023)
We confirm, in a prospective trial cohort, that H3K27me3 immunohistochemistry is a robust EPN-PFA biomarker. Tenascin-C should be abandoned as a PFA marker. DNA methylation and MIP arrays are effective tools for copy number analysis of 1q gain, 6q and CDKN2A loss whilst FISH is inadequate. Fusion detection was successful, but rare novel fusions need more extensive technologies. Finally, we propose test sets to guide future diagnostic approaches.