ALT phenotype assessment in IDH ‐mutant astrocytoma supports biologic consequence of ATRX missense mutations

作者：OO Kizilkaya, Kevin Y. Zhang, Mohamed Sherief, Debraj Mukherjee, Chetan Bettegowda, Matthias Holdhoff, Victoria Croog, Solmaz Sahebjam, David Kamson, Jordina Rincon‐Torroella, Karisa C. Schreck, Charles G. Eberhart, A K Meeker, Calixto‐Hope G. Lucas · 发表于：Brain Pathology · 年份：2026 · DOI：10.1111/bpa.70126 · 研究领域：Glioma Diagnosis and Treatment、Ubiquitin and proteasome pathways、Genetics and Neurodevelopmental Disorders

A meaningful subset of IDH-mutant astrocytoma harbors ATRX missense variants that retain ATRX IHC immunoreactivity yet exhibit functional ALT activation, supporting the biologic relevance of these missense mutations.