ALT in Pediatric High-Grade Gliomas Can Occur without ATRX Mutation and is Enriched in Patients with Pathogenic Germline MMR Variants.
Jennifer L StundonHeba IjazKrutika S GaonkarRebecca S KaufmanRun JinAnastasios KarrasZalman VaksmanJung KimRyan J CorbettMatthew R LuederDaniel P MillerYiran GuoMariarita SantiMarilyn LiGonzalo LopezPhillip B StormAdam C ResnickAngela J WaandersSuzanne P MacFarlandDouglas R StewartSharon J DiskinJo Lynne RokitaKristina A ColePublished in: Neuro-oncology (2022)
We demonstrate that ATRX is mutated in only a subset of ALT+ pHGG, suggesting other mechanisms of ATRX loss of function or alterations in other genes may be associated with the development of ALT in these patients. We show that germline variants in MMR are associated with development of ALT in patients with pHGG.