TP53, ATRX alterations, and low tumor mutation load feature IDH-wildtype giant cell glioblastoma despite exceptional ultra-mutated tumors

Abstract

gcGBMs have molecular features that contrast to "classic" IDHwt GBMs: unusually frequent <i>ATRX</i> mutations and few <i>EGFR</i> amplifications and <i>CDKN2A</i> deletions, especially in tumors with a high number of giant cells. TML is frequently low, although exceptional high TML suggests a potential for immune checkpoint therapy in some cases, which may be relevant for personalized medicine.