Clinical utility of whole-genome DNA methylation profiling as a primary molecular diagnostic assay for central nervous system tumors-A prospective study and guidelines for clinical testing.
Kristyn GalbraithVarshini VasudevarajaJonathan SerranoGuomiao ShenIvy TranNancy AbdallatMandisa WenSeema PatelMisha Movahed-EzaziArline FaustinMarissa Spino-KeetonLeah Geiser RobertsEkrem MalokuSteven A DrexlerBenjamin L LiechtyDavid PisapiaOlga Krasnozhen-RatushMarc RosenblumSeema ShroffDaniel R BouéChristian DavidsonQinwen MaoMariko SuchiPaula NorthAmanda M HoppAnnette SeguraJason A JarzembowskiLauren ParsonsMahlon D JohnsonBret MobleyWesley SamoreDeclan McGuonePallavi P GopalPeter D CanollCraig M HorbinskiJoseph M FullmerMidhat S FarooquiMurat GokdenNitin R WadhwaniTimothy E RichardsonMelissa UmphlettNadejda M TsankovaJohn C DeWittChandra SenDimitris G PlacantonakisDonato PacioneJeffrey H WisoffEveline Teresa HidalgoDavid HarterChristopher M WilliamChristine CordovaSylvia C KurzMarissa BarbaroDaniel A OrringerMatthias A KarajannisErik P SulmanSharon L GardnerDavid ZagzagAristotelis TsirigosJeffrey C AllenJohn G GolfinosMatija SnuderlPublished in: Neuro-oncology advances (2023)
DNA methylation analysis is a robust method to diagnose primary CNS tumors, improving diagnostic accuracy, decreasing diagnostic errors and inconclusive diagnoses, and providing prognostic subclassification. This study provides a framework for inclusion of DNA methylation profiling as a primary molecular diagnostic test into professional guidelines for CNS tumors. The benefits include increased diagnostic accuracy, improved patient management, and refinements in clinical trial design.